{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:37:48Z","timestamp":1791041868164,"version":"4.1.0"},"reference-count":326,"publisher":"Japanese Society for Pediatric Endocrinology","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr Endocrinol"],"published-print":{"date-parts":[[2026]]},"DOI":"10.1297\/cpe.2025-0073","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T22:06:18Z","timestamp":1764713178000},"page":"1-49","source":"Crossref","is-referenced-by-count":3,"title":["Clinical practice guidelines for the management of differences of sex development in Japan"],"prefix":"10.1297","volume":"35","author":[{"given":"Tomohiro","family":"Ishii","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Tokyo Metropolitan Children\u2019s Medical Center, Tokyo, Japan"},{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanobu","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Endocrinology, Research Institute, Osaka Women\u2019s and Children\u2019s Hospital Research Institute, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoyo","family":"Itonaga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Iwasa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Tokushima University, Tokushima, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akari","family":"Utsunomiya","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayo","family":"Ozaki","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Hyogo Prefectural Kobe Children\u2019s Hospital, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Kawamura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University, Miyagi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Koh","sequence":"additional","affiliation":[{"name":"Health Care Center, Kansai University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyuki","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Urology, Fukushima Medical University School of Medicine, Fukushima, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoko","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Psycho-Social Studies, Meiji University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Urology, Tokyo Metropolitan Children\u2019s Medical Center, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Shiraishi","sequence":"additional","affiliation":[{"name":"Department of Urology, Yamaguchi University, Ube, Yamaguchi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Naiki","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuru","family":"Nishiyama","sequence":"additional","affiliation":[{"name":"Health Care Center, Kochi University, Kochi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hamajima","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Aichi Children\u2019s Health and Medical Center, Aichi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuko","family":"Fujisawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Makita","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Endocrinology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuyuki","family":"Matsui","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Metabolism & Diabetes, Shiga General Hospital, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Yanai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery and Pediatric Urology, Ibaraki Children\u2019s Hospital, Ibaraki, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu Medical Center, Shizuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"125","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1. Lee, PA, Houk, CP, Ahmed, SF, Hughes, IA, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. Pediatrics 2006;118: e488\u2013500.","DOI":"10.1542\/peds.2006-0738"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Hughes, IA, Houk, C, Ahmed, SF, Lee, PA, LWPES Consensus GroupESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91: 554\u201363.","DOI":"10.1136\/adc.2006.098319"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Douglas, G, Axelrad, ME, Brandt, ML, Crabtree, E, Dietrich, JE, French, S, et al. Guidelines for evaluating and managing children born with disorders of sexual development. Pediatr Ann 2012;41: e1\u20137.","DOI":"10.3928\/00904481-20120307-09"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Guerrero-Fern\u00e1ndez, J, Azcona San Juli\u00e1n, C, Barreiro Conde, J, Berm\u00fadez de la Vega, JA, Carcavilla Urqu\u00ed, A, Casta\u00f1o Gonz\u00e1lez, LA, et al. [Management guidelines for disorders \/ different sex development (DSD)]. An Pediatr (Engl Ed) 2018;89: 315.e1\u201319 (in Spanish).","DOI":"10.1016\/j.anpede.2018.06.006"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Rodie, ME, Ali, SR, Jayasena, A, Alenazi, NR, McMillan, M, Cox, K, et al. Scottish DSD Network & the Scottish Paediatric Endocrine Group. A nationwide study of the prevalence and initial management of atypical genitalia in the newborn in Scotland. Sex Dev 2022;16: 11\u20138.","DOI":"10.1159\/000517327"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Cools, M, Nordenstr\u00f6m, A, Robeva, R, Hall, J, Westerveld, P, Fl\u00fcck, C, et al. COST Action BM1303 working group 1. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol 2018;14: 415\u201329.","DOI":"10.1038\/s41574-018-0010-8"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Guyatt, GH, Oxman, AD, Vist, GE, Kunz, R, Falck-Ytter, Y, Alonso-Coello, P, et al. GRADE Working Group. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008;336: 924\u20136.","DOI":"10.1136\/bmj.39489.470347.AD"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Suorsa-Johnson, KI, Gardner, MD, Brinkman, W, Carley, M, Gruppen, L, Liang, N, et al. A survey of healthcare professionals\u2019 perceptions of the decisional needs of parents with an infant born with a disorder\/difference of sex development. J Pediatr Urol 2023;19: 39\u201349.","DOI":"10.1016\/j.jpurol.2022.09.015"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. D\u00e9lot, EC, Vilain, E. Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet 2021;22: 588\u2013602.","DOI":"10.1038\/s41576-021-00365-5"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Kyriakou, A, Dessens, A, Bryce, J, Iotova, V, Juul, A, Krawczynski, M, et al. Current models of care for disorders of sex development - results from an International survey of specialist centres. Orphanet J Rare Dis 2016;11: 155.","DOI":"10.1186\/s13023-016-0534-8"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. O\u2019Connell, MA, Atlas, G, Ayers, K, Sinclair, A. Establishing a molecular genetic diagnosis in children with differences of sex development: a clinical approach. Horm Res Paediatr 2023;96: 128\u201343.","DOI":"10.1159\/000520926"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Babu, R, Shah, U. Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis. J Pediatr Urol 2021;17: 39\u201347.","DOI":"10.1016\/j.jpurol.2020.11.017"},{"key":"13","doi-asserted-by":"publisher","unstructured":"13. Hughes, IA, Davies, JD, Bunch, TI, Pasterski, V, Mastroyannopoulou, K, MacDougall, J. Androgen insensitivity syndrome. Lancet 2012;380: 1419\u201328.","DOI":"10.1016\/S0140-6736(12)60071-3"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Maimoun, L, Philibert, P, Cammas, B, Audran, F, Bouchard, P, Fenichel, P, et al. Phenotypical, biological, and molecular heterogeneity of 5\u03b1-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 2011;96: 296\u2013307.","DOI":"10.1210\/jc.2010-1024"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Yang, Z, Ye, L, Wang, W, Zhao, Y, Wang, W, Jia, H, et al. 17\u03b2-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review. J Steroid Biochem Mol Biol 2017;174: 141\u20135.","DOI":"10.1016\/j.jsbmb.2017.08.012"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Meyer-Bahlburg, HFL, Baratz Dalke, K, Berenbaum, SA, Cohen-Kettenis, PT, Hines, M, Schober, JM. Gender assignment, reassignment and outcome in disorders of sex development: update of the 2005 consensus conference. Horm Res Paediatr 2016;85: 112\u20138.","DOI":"10.1159\/000442386"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Fujisawa, Y, Masunaga, Y, Tanikawa, W, Nakashima, S, Ueda, D, Sano, S, et al. Serum steroid metabolite profiling by LC-MS\/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis. J Steroid Biochem Mol Biol 2023;234: 106403.","DOI":"10.1016\/j.jsbmb.2023.106403"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Jukier, L, Kaufman, M, Pinsky, L, Peterson, RE. Partial androgen resistance associated with secondary 5 alpha-reductase deficiency: identification of a novel qualitative androgen receptor defect and clinical implications. J Clin Endocrinol Metab 1984;59: 679\u201388.","DOI":"10.1210\/jcem-59-4-679"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Abac\u0131, A, \u00c7atl\u0131, G, K\u0131rb\u0131y\u0131k, \u00d6, \u015eahin, NM, Abal\u0131, ZY, \u00dcnal, E, et al. Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone\/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey. J Endocrinol Invest 2019;42: 453\u201370.","DOI":"10.1007\/s40618-018-0940-y"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Konishi, A, Ida, S, Matsui, F, Etani, Y, Kawai, M. Male assignment in 5\u03b1-reductase type 2 deficiency with female external genitalia. Pediatr Int (Roma) 2021.","DOI":"10.1111\/ped.14447"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Bertelloni, S, Scaramuzzo, RT, Parrini, D, Baldinotti, F, Tumini, S, Ghirri, P. Early diagnosis of 5alpha-reductase deficiency in newborns. Sex Dev 2007;1: 147\u201351.","DOI":"10.1159\/000102103"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Sato, T, Nakano, S, Honda, M, Narumi, S, Ishii, T, Hasegawa, T. Letter to the Editor regarding \u201cSerum steroid metabolite profiling by LC-MS\/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis\u201d. J Steroid Biochem Mol Biol 2024;239: 106484.","DOI":"10.1016\/j.jsbmb.2024.106484"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Ahmed, SF, Cheng, A, Dovey, L, Hawkins, JR, Martin, H, Rowland, J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 2000;85: 658\u201365.","DOI":"10.1210\/jc.85.2.658"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Lucas-Herald, A, Bertelloni, S, Juul, A, Bryce, J, Jiang, J, Rodie, M, et al. The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene. J Clin Endocrinol Metab 2016;101: 3959\u201367.","DOI":"10.1210\/jc.2016-1372"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Ishii, T, Kashimada, K, Amano, N, Takasawa, K, Nakamura-Utsunomiya, A, Yatsuga, S, et al. Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). Clin Pediatr Endocrinol 2022;31: 116\u201343.","DOI":"10.1297\/cpe.2022-0009"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Hines, M. Gender development and the human brain. Annu Rev Neurosci 2011;34: 69\u201388.","DOI":"10.1146\/annurev-neuro-061010-113654"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Suorsa, KI, Mullins, AJ, Tackett, AP, Reyes, KJS, Austin, P, Baskin, L, et al. Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex development. J Urol 2015;194: 1737\u201342.","DOI":"10.1016\/j.juro.2015.06.104"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Ahmed, SF, Achermann, JC, Arlt, W, Balen, A, Conway, G, Edwards, Z, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf) 2016;84: 771\u201388.","DOI":"10.1111\/cen.12857"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Moshiri, M, Chapman, T, Fechner, PY, Dubinsky, TJ, Shnorhavorian, M, Osman, S, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics 2012;32: 1599\u2013618.","DOI":"10.1148\/rg.326125507"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Furtado, PS, Moraes, F, Lago, R, Barros, LO, Toralles, MB, Barroso, Jr, U. Nat Rev Urol 2012;9: 620\u20137.","DOI":"10.1038\/nrurol.2012.182"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Ishii, T, Matsuo, N, Inokuchi, M, Hasegawa, T. A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years. Horm Res Paediatr 2014;82: 388\u201393.","DOI":"10.1159\/000368965"},{"key":"32","unstructured":"32. Yokoya, S, Kato, K, Suwa, S. [Penile and clitoral size in premature and normal newborns, infants and children]. Horumon To Rinsho 1983;31: 1215\u201320 (in Japanese)."},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Castets, S, Nguyen, KA, Plaisant, F, Prudon, MB, Plotton, I, Kassai, B, et al. Reference values for the external genitalia of full-term and pre-term female neonates. Arch Dis Child Fetal Neonatal Ed 2021;106: 39\u201344.","DOI":"10.1136\/archdischild-2019-318090"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. Callegari, C, Everett, S, Ross, M, Brasel, JA. Anogenital ratio: measure of fetal virilization in premature and full-term newborn infants. J Pediatr 1987;111: 240\u20133.","DOI":"10.1016\/S0022-3476(87)80075-6"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Quigley, CA, De Bellis, A, Marschke, KB, el-Awady, MK, Wilson, EM, French, FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 1995;16: 271\u2013321.","DOI":"10.1210\/edrv-16-3-271"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Sato, T, Ishii, T, Yamaguchi, Y, Ichihashi, Y, Ochiai, D, Asanuma, H, et al. Case report: Prenatal genetic counseling to parents of fetuses suspected of having ambiguous genitalia. Front Pediatr 2021;8: 569548.","DOI":"10.3389\/fped.2020.569548"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37. van der Straaten, S, Springer, A, Zecic, A, Hebenstreit, D, Tonnhofer, U, Gawlik, A, et al. The external genitalia score (EGS): A European multicenter validation study. J Clin Endocrinol Metab 2020;105: e222\u201330.","DOI":"10.1210\/clinem\/dgz142"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38. Nanda, PM, Yadav, J, Dayal, D, Kumar, R, Kumar, P, Kumar, J, et al. Applicability of the external genitalia score (EGS) in Indian neonates and children up to 2 years of age. J Pediatr Endocrinol Metab 2024;37: 811\u20139.","DOI":"10.1515\/jpem-2024-0130"},{"key":"39","unstructured":"39. Sheikh, WH, Asif, N, Haroon, ZH, Ejaz, A, Ain, QU, Shehzad, N. Diagnostic accuracy of human chorionic gonadotropins (HCG) stimulation test in XY-disorders of sex development (XY-DSD) presented in Armed Forces Institute of Pathology. J Pak Med Assoc 2019;69: 1090\u20133."},{"key":"40","doi-asserted-by":"crossref","unstructured":"40. de Oliveira, LR, Longui, CA, Guaragna-Filho, G, da Costa, JL, Lanaro, R, Chiamolera, MI, et al. Suggested cutoff point for testosterone by liquid chromatography with tandem mass spectrometry (LC-MS\/MS) after stimulation with recombinant human chorionic gonadotropin. Sex Dev 2022;16: 266\u20139.","DOI":"10.1159\/000519422"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41. Baidya, A, Basu, AK, Bhattacharjee, R, Biswas, D, Biswas, K, Chakraborty, PP, et al. Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement. J Pediatr Endocrinol Metab 2022;36: 4\u201318.","DOI":"10.1515\/jpem-2022-0515"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42. Bertelloni, S, Russo, G, Baroncelli, GI. Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46,xy disorders of sex development. Sex Dev 2018;12: 41\u20139.","DOI":"10.1159\/000481552"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43. Lee, MM, Donahoe, PK, Silverman, BL, Hasegawa, T, Hasegawa, Y, Gustafson, ML, et al. Measurements of serum m\u00fcllerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 1997;336: 1480\u20136.","DOI":"10.1056\/NEJM199705223362102"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44. Rey, RA, Belville, C, Nihoul-F\u00e9k\u00e9t\u00e9, C, Michel-Calemard, L, Forest, MG, Lahlou, N, et al. Evaluation of gonadal function in 107 intersex patients by means of serum antim\u00fcllerian hormone measurement. J Clin Endocrinol Metab 1999;84: 627\u201331.","DOI":"10.1210\/jcem.84.2.5507"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45. Hafez, M, El Dayem, SMA, El Mougy, F, Atef, A, Kandil, M, Galal, A, et al. The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development. J Pediatr Endocrinol Metab 2014;27: 891\u20139.","DOI":"10.1515\/jpem-2013-0355"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46. Mendez, JP, Schiavon, R, Diaz-Cueto, L, Ruiz, AI, Canto, P, S\u00f6derlund, D, et al. A reliable endocrine test with human menopausal gonadotropins for diagnosis of true hermaphroditism in early infancy. J Clin Endocrinol Metab 1998;83: 3523\u20136.","DOI":"10.1210\/jc.83.10.3523"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47. Steinmetz, L, Rocha, MN, Longui, CA, Damiani, D, Dichtchekenian, V, Setian, N, et al. Inhibin A production after gonadotropin stimulus: a new method to detect ovarian tissue in ovotesticular disorder of sex development. Horm Res 2009;71: 94\u20139.","DOI":"10.1159\/000183898"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48. Miclea, D, Alkhzouz, C, Bucerzan, S, Grigorescu-Sido, P, Popp, RA, Pascanu, IM, et al. Molecular and cytogenetic analysis of Romanian patients with differences in sex development. Diagnostics (Basel) 2021;11: 2107.","DOI":"10.3390\/diagnostics11112107"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49. Man, E, Mushtaq, I, Barnicoat, A, Carmichael, P, Hughes, CR, Davies, K, et al. A single-center, observational study of 607 children and young people presenting with differences of sex development (DSD). J Endocr Soc 2022;7: bvac165.","DOI":"10.1210\/jendso\/bvac165"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50. Ata, A, \u00d6zen, S, Onay, H, Uzun, S, G\u00f6k\u015fen, D, \u00d6zk\u0131nay, F, et al. A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. Eur J Med Genet 2021;64: 104154.","DOI":"10.1016\/j.ejmg.2021.104154"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51. Ganie, Y, Aldous, C, Balakrishna, Y, Wiersma, R. Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre. J Pediatr Endocrinol Metab 2017;30: 11\u20138.","DOI":"10.1515\/jpem-2016-0152"},{"key":"52","doi-asserted-by":"crossref","unstructured":"52. Juniarto, AZ, van der Zwan, YG, Santosa, A, Ariani, MD, Eggers, S, Hersmus, R, et al. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf) 2016;85: 247\u201357.","DOI":"10.1111\/cen.13051"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53. Gomes, NL, Batista, RL, Nishi, MY, Ler\u00e1rio, AM, Silva, TE, de Moraes Narcizo, A, et al. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,xy differences of sex development. J Clin Endocrinol Metab 2022;107: e1797\u2013806.","DOI":"10.1210\/clinem\/dgac064"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54. Mazen, I, Mekkawy, M, Kamel, A, Essawi, M, Hassan, H, Abdel-Hamid, M, et al. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. Am J Med Genet A 2021;185: 1666\u201377.","DOI":"10.1002\/ajmg.a.62129"},{"key":"55","doi-asserted-by":"crossref","unstructured":"55. Hayashi, M, Narumi, S, Sato, T, Amano, N, Suwanai, AS, et al. Genetic and clinical characteristics of 185 Japanese children with 46,XY differences of sex development. J Clin Endocrinol Metab 2025;110: e2682\u201390.","DOI":"10.1210\/clinem\/dgae813"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56. Aaronson, IA, Aaronson, AJ. How should we classify intersex disorders?J Pediatr Urol 2010;6: 443\u20136.","DOI":"10.1016\/j.jpurol.2010.04.008"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57. Kim, HI, Lee, I, Kim, SH, Lee, YS, Han, SW, Yun, BH. Ovotesticular disorder of sex development in Korean children: A single-center analysis over a 30-year period. J Pediatr Adolesc Gynecol 2021;34: 626\u201330.","DOI":"10.1016\/j.jpag.2021.02.105"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58. Persani, L, Cools, M, Ioakim, S, Faisal Ahmed, S, Andonova, S, Avbelj-Stefanija, M, et al. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocr Connect 2022;11: e220367.","DOI":"10.1530\/EC-22-0367"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59. Wang, H, Zhang, L, Wang, N, Zhu, H, Han, B, Sun, F, et al. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. Hum Genet 2018;137: 265\u201377.","DOI":"10.1007\/s00439-018-1879-y"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60. Xie, QG, Luo, P, Xia, K, Li, ZQ, Xu, Z, Su, C, et al. 46,XY disorders of sex development: the use of NGS for prevalent variants. Hum Genet 2022;141: 1863\u201373.","DOI":"10.1007\/s00439-022-02465-6"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61. Zhang, W, Mao, J, Wang, X, Zhao, Z, Zhang, X, Sun, B, et al. The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development. Andrology 2024;12: 98\u2013108.","DOI":"10.1111\/andr.13446"},{"key":"62","doi-asserted-by":"crossref","unstructured":"62. Thyen, U, Lanz, K, Holterhus, PM, Hiort, O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 2006;66: 195\u2013203.","DOI":"10.1159\/000094782"},{"key":"63","doi-asserted-by":"crossref","unstructured":"63. Aydin, BK, Saka, N, Bas, F, Bas, EK, Coban, A, Yildirim, S, et al. Frequency of ambiguous genitalia in 14,177 newborns in Turkey. J Endocr Soc 2019;3: 1185\u201395.","DOI":"10.1210\/js.2018-00408"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64. Berglund, A, Johannsen, TH, Stochholm, K, Viuff, MH, Fedder, J, Main, KM, et al. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,xy disorders of sex development. J Clin Endocrinol Metab 2016;101: 4532\u201340.","DOI":"10.1210\/jc.2016-2248"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65. Berglund, A, Johannsen, TH, Stochholm, K, Aksglaede, L, Fedder, J, Viuff, MH, et al. Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study. Hum Reprod 2017;32: 1751\u201360.","DOI":"10.1093\/humrep\/dex210"},{"key":"66","doi-asserted-by":"crossref","unstructured":"66. van Zoest, M, Bijker, EM, Kortmann, BBM, Kempers, M, van Herwaarden, AE, van der Velden, J, et al. Sex assignment and diagnostics in infants with ambiguous genitalia - A single-center retrospective study. Sex Dev 2019;13: 109\u201317.","DOI":"10.1159\/000502074"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67. Gau, M, Konishi, K, Takasawa, K, Nakagawa, R, Tsuji-Hosokawa, A, Hashimoto, A, et al. The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf) 2021;94: 229\u201336.","DOI":"10.1111\/cen.14347"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68. De Paula, GB, Barros, BA, Carpini, S, Tincani, BJ, Mazzola, TN, Sanches Guaragna, M, et al. 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: Etiologic diagnosis and sex of rearing. Int J Endocrinol 2016;2016: 4963574.","DOI":"10.1155\/2016\/4963574"},{"key":"69","doi-asserted-by":"crossref","unstructured":"69. Al-Mutair, A, Iqbal, MA, Sakati, N, Ashwal, A. Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. Ann Saudi Med 2004;24: 368\u201372.","DOI":"10.5144\/0256-4947.2004.368"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70. Ahmed, SF, Khwaja, O, Hughes, IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85: 120\u20134.","DOI":"10.1046\/j.1464-410x.2000.00354.x"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71. Alhomaidah, D, McGowan, R, Ahmed, SF. The current state of diagnostic genetics for conditions affecting sex development. Clin Genet 2017;91: 157\u201362.","DOI":"10.1111\/cge.12912"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72. Yatsenko, SA, Witchel, SF. Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know. Semin Perinatol 2017;41: 232\u201343.","DOI":"10.1053\/j.semperi.2017.03.016"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73. Queipo, G, Zenteno, JC, Pe\u00f1a, R, Nieto, K, Radillo, A, Dorantes, LM, et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002;111: 278\u201383.","DOI":"10.1007\/s00439-002-0772-9"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74. Wiktor, A, Van Dyke, DL. FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med 2004;6: 132\u20135.","DOI":"10.1097\/01.GIM.0000127270.49902.56"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75. Bergad\u00e1, I, Milani, C, Bedecarr\u00e1s, P, Andreone, L, Ropelato, MG, Gottlieb, S, et al. Time course of the serum gonadotropin surge, inhibins, and anti-M\u00fcllerian hormone in normal newborn males during the first month of life. J Clin Endocrinol Metab 2006;91: 4092\u20138.","DOI":"10.1210\/jc.2006-1079"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76. Kulle, AE, Riepe, FG, Melchior, D, Hiort, O, Holterhus, PM. A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data. J Clin Endocrinol Metab 2010;95: 2399\u2013409.","DOI":"10.1210\/jc.2009-1670"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77. Forest, MG. Pattern of the response of testosterone and its precursors to human chorionic gonadotropin stimulation in relation to age in infants and children. J Clin Endocrinol Metab 1979;49: 132\u20137.","DOI":"10.1210\/jcem-49-1-132"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78. Aksglaede, L, S\u00f8rensen, K, Boas, M, Mouritsen, A, Hagen, CP, Jensen, RB, et al. Changes in anti-M\u00fcllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab 2010;95: 5357\u201364.","DOI":"10.1210\/jc.2010-1207"},{"key":"79","doi-asserted-by":"crossref","unstructured":"79. Guibourdenche, J, Lucidarme, N, Chevenne, D, Rigal, O, Nicolas, M, Luton, D, et al. Anti-M\u00fcllerian hormone levels in serum from human foetuses and children: pattern and clinical interest. Mol Cell Endocrinol 2003;211: 55\u201363.","DOI":"10.1016\/j.mce.2003.09.011"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80. Koyama, Y, Homma, K, Fukami, M, Miwa, M, Ikeda, K, Ogata, T, et al. Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone\/ tetrahydroxycortisone ratio and 11\u03b2-hydroxyandrosterone. Clin Chem 2012;58: 741\u20137.","DOI":"10.1373\/clinchem.2011.173286"},{"key":"81","doi-asserted-by":"crossref","unstructured":"81. Homma, K, Hasegawa, T, Takeshita, E, Watanabe, K, Anzo, M, Toyoura, T, et al. Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. J Clin Endocrinol Metab 2004;89: 6087\u201391.","DOI":"10.1210\/jc.2004-0473"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82. Kanemoto, K, Hayashi, Y, Kojima, Y, Maruyama, T, Ito, M, Kohri, K. Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of non-palpable testis. Int J Urol 2005;12: 668\u201372.","DOI":"10.1111\/j.1442-2042.2005.01102.x"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83. Steven, M, O\u2019Toole, S, Lam, JPH, MacKinlay, GA, Cascio, S. Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. Pediatr Surg Int 2012;28: 1161\u20134.","DOI":"10.1007\/s00383-012-3178-3"},{"key":"84","doi-asserted-by":"crossref","unstructured":"84. Mansour, SM, Hamed, ST, Adel, L, Kamal, RM, Ahmed, DM. Does MRI add to ultrasound in the assessment of disorders of sex development?Eur J Radiol 2012;81: 2403\u201310.","DOI":"10.1016\/j.ejrad.2011.12.036"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85. Alaniz, VI, Kobernik, EK, Dillman, J, Quint, EH. Utility of ultrasound and magnetic resonance imaging in patients with disorders of sex development who undergo prophylactic gonadectomy. J Pediatr Adolesc Gynecol 2016;29: 577\u201381.","DOI":"10.1016\/j.jpag.2016.03.007"},{"key":"86","doi-asserted-by":"crossref","unstructured":"86. Tasian, GE, Copp, HL. Diagnostic performance of ultrasound in nonpalpable cryptorchidism: a systematic review and meta-analysis. Pediatrics 2011;127: 119\u201328.","DOI":"10.1542\/peds.2010-1800"},{"key":"87","doi-asserted-by":"crossref","unstructured":"87. Fazal, K, Hussain, S, Khan, F, Ullah, I, Tahir, MJ, Mehmood, Q, et al. To determine the sensitivity, specificity, and diagnostic accuracy of diffusion-weighted MRI in localization of non-palpable undescended testes taking laparoscopic findings as the gold standard: A cross-sectional study from Pakistan. Ann Med Surg (Lond) 2021;73: 103161.","DOI":"10.1016\/j.amsu.2021.103161"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88. Krishnaswami, S, Fonnesbeck, C, Penson, D, McPheeters, ML. Magnetic resonance imaging for locating nonpalpable undescended testicles: a meta-analysis. Pediatrics 2013;131: e1908\u201316.","DOI":"10.1542\/peds.2013-0073"},{"key":"89","doi-asserted-by":"crossref","unstructured":"89. Matsuo, N. Skeletal and Sexual Maturation in Japanese Children. Clin Pediatr Endocrinol 1993;2: 1\u20134.","DOI":"10.1297\/cpe.2.Supple1_1"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90. Sedlmeyer, IL, Palmert, MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002;87: 1613\u201320.","DOI":"10.1210\/jcem.87.4.8395"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91. Herlihy, AS, Halliday, JL, Cock, ML, McLachlan, RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust 2011;194: 24\u20138.","DOI":"10.5694\/j.1326-5377.2011.tb04141.x"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92. Sato, N, Katsumata, N, Kagami, M, Hasegawa, T, Hori, N, Kawakita, S, et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 2004;89: 1079\u201388.","DOI":"10.1210\/jc.2003-030476"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93. Young, J. Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2012;97: 707\u201318.","DOI":"10.1210\/jc.2011-1664"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94. Gravholt, CH, Chang, S, Wallentin, M, Fedder, J, Moore, P, Skakkeb\u00e6k, A. Klinefelter syndrome: Integrating genetics, neuropsychology, and endocrinology. Endocr Rev 2018;39: 389\u2013423.","DOI":"10.1210\/er.2017-00212"},{"key":"95","doi-asserted-by":"crossref","unstructured":"95. Coutant, R, Biette-Demeneix, E, Bouvattier, C, Bouhours-Nouet, N, Gatelais, F, Dufresne, S, et al. Baseline inhibin B and anti-Mullerian hormone measurements for diagnosis of hypogonadotropic hypogonadism (HH) in boys with delayed puberty. J Clin Endocrinol Metab 2010;95: 5225\u201332.","DOI":"10.1210\/jc.2010-1535"},{"key":"96","doi-asserted-by":"crossref","unstructured":"96. Audi, L, Ahmed, SF, Krone, N, Cools, M, McElreavey, K, Holterhus, PM, et al. The EU COST ActionGENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST Action BM 1303 \u2018DSDnet\u2019. Eur J Endocrinol 2018;179: R197\u2013206.","DOI":"10.1530\/EJE-18-0256"},{"key":"97","doi-asserted-by":"crossref","unstructured":"97. Dunkel, L, Perheentupa, J, Virtanen, M, M\u00e4enp\u00e4\u00e4, J. GnRH and HCG tests are both necessary in differential diagnosis of male delayed puberty. Am J Dis Child 1985;139: 494\u20138.","DOI":"10.1001\/archpedi.1985.02140070068036"},{"key":"98","doi-asserted-by":"crossref","unstructured":"98. Segal, TY, Mehta, A, Anazodo, A, Hindmarsh, PC, Dattani, MT. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab 2009;94: 780\u20135.","DOI":"10.1210\/jc.2008-0302"},{"key":"99","doi-asserted-by":"crossref","unstructured":"99. Grinspon, RP, Ropelato, MG, Gottlieb, S, Keselman, A, Mart\u00ednez, A, Ballerini, MG, et al. Basal follicle-stimulating hormone and peak gonadotropin levels after gonadotropin-releasing hormone infusion show high diagnostic accuracy in boys with suspicion of hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2010;95: 2811\u20138.","DOI":"10.1210\/jc.2009-2732"},{"key":"100","doi-asserted-by":"crossref","unstructured":"100. Maki, D, Watanabe, Y, Nagayama, M, Ishimori, T, Okumura, A, Amoh, Y, et al. Diffusion-weighted magnetic resonance imaging in the detection of testicular torsion: feasibility study. J Magn Reson Imaging 2011;34: 1137\u201342.","DOI":"10.1002\/jmri.22698"},{"key":"101","doi-asserted-by":"crossref","unstructured":"101. Wei, C, Crowne, EC. Recent advances in the understanding and management of delayed puberty. Arch Dis Child 2016;101: 481\u20138.","DOI":"10.1136\/archdischild-2014-307963"},{"key":"102","doi-asserted-by":"crossref","unstructured":"102. Isojima, T, Yokoya, S, Ito, J, Horikawa, R, Tanaka, T. New reference growth charts for Japanese girls with Turner syndrome. Pediatr Int 2009;51: 709\u201314.","DOI":"10.1111\/j.1442-200X.2009.02838.x"},{"key":"103","doi-asserted-by":"crossref","unstructured":"103. Aso, K, Koto, S, Higuchi, A, Ariyasu, D, Izawa, M, Miyamoto Igaki, J, et al. Serum FSH level below 10 mIU\/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocr J 2010;57: 909\u201313.","DOI":"10.1507\/endocrj.K10E-092"},{"key":"104","doi-asserted-by":"crossref","unstructured":"104. Michala, L, Aslam, N, Conway, GS, Creighton, SM. The clandestine uterus: or how the uterus escapes detection prior to puberty. BJOG 2010;117: 212\u20135.","DOI":"10.1111\/j.1471-0528.2009.02413.x"},{"key":"105","doi-asserted-by":"crossref","unstructured":"105. Sepp\u00e4, S, Kuiri-H\u00e4nninen, T, Holopainen, E, Voutilainen, R. MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty. Eur J Endocrinol 2021;184: R225\u201342.","DOI":"10.1530\/EJE-20-1487"},{"key":"106","doi-asserted-by":"crossref","unstructured":"106. Naroji, S, Gomez-Lobo, V, Finlayson, C. Primary amenorrhea and differences of sex development. Semin Reprod Med 2022;40: 16\u201322.","DOI":"10.1055\/s-0042-1753551"},{"key":"107","doi-asserted-by":"crossref","unstructured":"107. Yatsenko, SA, Witchel, SF, Gordon, CM. Primary amenorrhea and premature ovarian insufficiency. Endocrinol Metab Clin North Am 2024;53: 293\u2013305.","DOI":"10.1016\/j.ecl.2024.01.009"},{"key":"108","doi-asserted-by":"crossref","unstructured":"108. Fischer, MB, Mola, G, Rom, AL, Frederiksen, H, Johannsen, TH, Sundberg, K, et al. Ovarian and uterine morphology in minipuberty: Associations with reproductive hormones: A COPANA study of 302 girls. J Clin Endocrinol Metab 2025;110: 1015\u201322.","DOI":"10.1210\/clinem\/dgae678"},{"key":"109","doi-asserted-by":"crossref","unstructured":"109. Hagen, CP, Fischer, MB, Wohlfahrt-Veje, C, Assens, M, Busch, AS, Pedersen, AT, et al. AMH concentrations in infancy and mid-childhood predict ovarian activity in adolescence: A long-term longitudinal study of healthy girls. EClinicalMedicine 2022;55: 101742.","DOI":"10.1016\/j.eclinm.2022.101742"},{"key":"110","doi-asserted-by":"crossref","unstructured":"110. Lunding, SA, Aksglaede, L, Anderson, RA, Main, KM, Juul, A, Hagen, CP, et al. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients. J Clin Endocrinol Metab 2015;100: E1030\u20138.","DOI":"10.1210\/jc.2015-1621"},{"key":"111","doi-asserted-by":"crossref","unstructured":"111. Visser, JA, Hokken-Koelega, ACS, Zandwijken, GRJ, Limacher, A, Ranke, MB, Fl\u00fcck, CE. Anti-M\u00fcllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Hum Reprod 2013;28: 1899\u2013907.","DOI":"10.1093\/humrep\/det089"},{"key":"112","unstructured":"112. Gravholt, CH, Andersen, NH, Christin-Maitre, S, Davis, SM, Duijnhouwer, A, Gawlik, A, et al. International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol 2024;190: G53\u2013151."},{"key":"113","unstructured":"113. Klein, DA, Paradise, SL, Reeder, RM. Amenorrhea: A systematic approach to diagnosis and management. Am Fam Physician 2019;100: 39\u201348."},{"key":"114","doi-asserted-by":"crossref","unstructured":"114. Geckinli, BB, Toksoy, G, Sayar, C, Soylemez, MA, Yesil, G, Ayd\u0131n, H, et al. Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency. Eur J Obstet Gynecol Reprod Biol 2014;182: 211\u20135.","DOI":"10.1016\/j.ejogrb.2014.09.033"},{"key":"115","doi-asserted-by":"crossref","unstructured":"115. Garel, L, Dubois, J, Grignon, A, Filiatrault, D, Van Vliet, G. US of the pediatric female pelvis: a clinical perspective. Radiographics 2001;21: 1393\u2013407.","DOI":"10.1148\/radiographics.21.6.g01nv041393"},{"key":"116","doi-asserted-by":"crossref","unstructured":"116. Reinhold, C, Hricak, H, Forstner, R, Ascher, SM, Bret, PM, Meyer, WR, et al. Primary amenorrhea: evaluation with MR imaging. Radiology 1997;203: 383\u201390.","DOI":"10.1148\/radiology.203.2.9114092"},{"key":"117","unstructured":"117. Imai, A, Furui, T, Matsunami, K, Tamaya, T. Magnetic resonance evaluation of uterine malformation with corpus agenesis. J Med 1997;28: 223\u20137."},{"key":"118","doi-asserted-by":"crossref","unstructured":"118. Nordenstr\u00f6m, A, Ahmed, SF, van den Akker, E, Blair, J, Bonomi, M, Brachet, C, et al. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline. Eur J Endocrinol 2022;186: G9\u201349.","DOI":"10.1530\/EJE-22-0073"},{"key":"119","doi-asserted-by":"crossref","unstructured":"119. Eisenegger, C, Haushofer, J, Fehr, E. The role of testosterone in social interaction. Trends Cogn Sci 2011;15: 263\u201371.","DOI":"10.1016\/j.tics.2011.04.008"},{"key":"120","doi-asserted-by":"crossref","unstructured":"120. Graber, JA. Pubertal timing and the development of psychopathology in adolescence and beyond. Horm Behav 2013;64: 262\u20139.","DOI":"10.1016\/j.yhbeh.2013.04.003"},{"key":"121","doi-asserted-by":"crossref","unstructured":"121. Day, FR, Elks, CE, Murray, A, Ong, KK, Perry, JRB. Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study. Sci Rep 2015;5: 11208.","DOI":"10.1038\/srep11208"},{"key":"122","doi-asserted-by":"crossref","unstructured":"122. Wikstr\u00f6m, AM, Dunkel, L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 2011;25: 239\u201350.","DOI":"10.1016\/j.beem.2010.09.006"},{"key":"123","doi-asserted-by":"publisher","unstructured":"123. Lanfranco, F, Kamischke, A, Zitzmann, M, Nieschlag, E. Klinefelter\u2019s syndrome. Lancet 2004;364: 273\u201383.","DOI":"10.1016\/S0140-6736(04)16678-6"},{"key":"124","doi-asserted-by":"crossref","unstructured":"124. Salbenblatt, JA, Bender, BG, Puck, MH, Robinson, A, Faiman, C, Winter, JS. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 1985;19: 82\u20136.","DOI":"10.1203\/00006450-198501000-00022"},{"key":"125","doi-asserted-by":"crossref","unstructured":"125. Ljubicic, ML, J\u00f8rgensen, A, Acerini, C, Andrade, J, Balsamo, A, Bertelloni, S, et al. Clinical but not histological outcomes in males with 45,X\/46,XY mosaicism vary depending on reason for diagnosis. J Clin Endocrinol Metab 2019;104: 4366\u201381.","DOI":"10.1210\/jc.2018-02752"},{"key":"126","doi-asserted-by":"crossref","unstructured":"126. Mason, KA, Schoelwer, MJ, Rogol, AD. Androgens during infancy, childhood, and adolescence: physiology and use in clinical practice. Endocr Rev 2020;41: 161\u2013136.","DOI":"10.1210\/endrev\/bnaa003"},{"key":"127","doi-asserted-by":"crossref","unstructured":"127. Bertelloni, S, Baroncelli, GI, Garofalo, P, Cianfarani, S. Androgen therapy in hypogonadal adolescent males. Horm Res Paediatr 2010;74: 292\u20136.","DOI":"10.1159\/000320390"},{"key":"128","doi-asserted-by":"crossref","unstructured":"128. Bourguignon, JP. Linear growth as a function of age at onset of puberty and sex steroid dosage: therapeutic implications. Endocr Rev 1988;9: 467\u201388.","DOI":"10.1210\/edrv-9-4-467"},{"key":"129","doi-asserted-by":"crossref","unstructured":"129. Bourguignon, JP, Vandeweghe, M, Vanderschueren-Lodeweyckx, M, Malvaux, P, Wolter, R, Du Caju, M, et al. Pubertal growth and final height in hypopituitary boys: a minor role of bone age at onset of puberty. J Clin Endocrinol Metab 1986;63: 376\u201382.","DOI":"10.1210\/jcem-63-2-376"},{"key":"130","doi-asserted-by":"crossref","unstructured":"130. van Pareren, YK, de Muinck Keizer-Schrama, SMPF, Stijnen, T, Sas, TCJ, Jansen, M, Otten, BJ, et al. Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab 2003;88: 1119\u201325.","DOI":"10.1210\/jc.2002-021171"},{"key":"131","doi-asserted-by":"crossref","unstructured":"131. Piippo, S, Lenko, H, Kainulainen, P, Sipil\u00e4, I. Use of percutaneous estrogen gel for induction of puberty in girls with Turner syndrome. J Clin Endocrinol Metab 2004;89: 3241\u20137.","DOI":"10.1210\/jc.2003-032069"},{"key":"132","doi-asserted-by":"crossref","unstructured":"132. Bannink, EMN, van Sassen, C, van Buuren, S, de Jong, FH, Lequin, M, Mulder, PG, et al. Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels. Clin Endocrinol (Oxf) 2009;70: 265\u201373.","DOI":"10.1111\/j.1365-2265.2008.03446.x"},{"key":"133","doi-asserted-by":"crossref","unstructured":"133. Nabhan, ZM, Dimeglio, LA, Qi, R, Perkins, SM, Eugster, EA. Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study. J Clin Endocrinol Metab 2009;94: 2009\u201314.","DOI":"10.1210\/jc.2008-2123"},{"key":"134","doi-asserted-by":"crossref","unstructured":"134. Ross, JL, Quigley, CA, Cao, D, Feuillan, P, Kowal, K, Chipman, JJ, et al. Growth hormone plus childhood low-dose estrogen in Turner\u2019s syndrome. N Engl J Med 2011;364: 1230\u201342.","DOI":"10.1056\/NEJMoa1005669"},{"key":"135","doi-asserted-by":"crossref","unstructured":"135. Taboada, M, Santen, R, Lima, J, Hossain, J, Singh, R, Klein, KO, et al. Pharmacokinetics and pharmacodynamics of oral and transdermal 17\u03b2 estradiol in girls with Turner syndrome. J Clin Endocrinol Metab 2011;96: 3502\u201310.","DOI":"10.1210\/jc.2011-1449"},{"key":"136","doi-asserted-by":"crossref","unstructured":"136. Labarta, JI, Moreno, ML, L\u00f3pez-Siguero, JP, Luzuriaga, C, Rica, I, S\u00e1nchez-del Pozo, J, et al. Spanish Turner working group. Individualised vs fixed dose of oral 17\u03b2-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial. Eur J Endocrinol 2012;167: 523\u20139.","DOI":"10.1530\/EJE-12-0444"},{"key":"137","doi-asserted-by":"crossref","unstructured":"137. Rodari, G, Federici, S, Todisco, T, Ubertini, G, Cattoni, A, Pagano, M, et al. Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry. Eur J Endocrinol 2023;188: 467\u201376.","DOI":"10.1093\/ejendo\/lvad056"},{"key":"138","doi-asserted-by":"crossref","unstructured":"138. Shah, S, Forghani, N, Durham, E, Neely, EK. A randomized trial of transdermal and oral estrogen therapy in adolescent girls with hypogonadism. Int J Pediatr Endocrinol 2014;2014: 12.","DOI":"10.1186\/1687-9856-2014-12"},{"key":"139","doi-asserted-by":"crossref","unstructured":"139. Goddings, AL, Beltz, A, Peper, JS, Crone, EA, Braams, BR. Understanding the role of puberty in structural and functional development of the adolescent brain. J Res Adolesc 2019;29: 32\u201353.","DOI":"10.1111\/jora.12408"},{"key":"140","doi-asserted-by":"crossref","unstructured":"140. Hankus, M, Soltysik, K, Szeliga, K, Antosz, A, Drosdzol-Cop, A, Wilk, K, et al. Prediction of spontaneous puberty in Turner syndrome based on mid-childhood gonadotropin concentrations, karyotype, and ovary visualization: A longitudinal study. Horm Res Paediatr 2018;89: 90\u20137.","DOI":"10.1159\/000485321"},{"key":"141","doi-asserted-by":"crossref","unstructured":"141. Hamza, RT, Mira, MF, Hamed, AI, Ezzat, T, Sallam, MT. Anti-M\u00fcllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy. Am J Med Genet A 2018;176: 1929\u201334.","DOI":"10.1002\/ajmg.a.40473"},{"key":"142","doi-asserted-by":"crossref","unstructured":"142. Mauras, N, Torres-Santiago, L, Santen, R, Mericq, V, Ross, J, Colon-Otero, G, et al. Impact of route of administration on genotoxic oestrogens concentrations using oral vs transdermal oestradiol in girls with Turner syndrome. Clin Endocrinol (Oxf) 2019;90: 155\u201361.","DOI":"10.1111\/cen.13869"},{"key":"143","doi-asserted-by":"crossref","unstructured":"143. Gravholt, CH, Andersen, NH, Conway, GS, Dekkers, OM, Geffner, ME, Klein, KO, et al. International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177: G1\u201370.","DOI":"10.1530\/EJE-17-0430"},{"key":"144","doi-asserted-by":"crossref","unstructured":"144. Shiraishi, K, Matsuyama, H. Klinefelter syndrome: From pediatrics to geriatrics. Reprod Med Biol 2018;18: 140\u201350.","DOI":"10.1002\/rmb2.12261"},{"key":"145","doi-asserted-by":"crossref","unstructured":"145. van der Zwan, YG, Callens, N, van Kuppenveld, J, Kwak, K, Drop, SLS, Kortmann, B, et al. Dutch Study Group on DSD. Long-term outcomes in males with disorders of sex development. J Urol 2013;190: 1038\u201342.","DOI":"10.1016\/j.juro.2013.03.029"},{"key":"146","doi-asserted-by":"crossref","unstructured":"146. Nordenstr\u00f6m, A, R\u00f6hle, R, Thyen, U, Bouvattier, C, Slowikowska-Hilczer, J, Reisch, N, et al. dsd-LIFE group. Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development. Clin Endocrinol (Oxf) 2018;88: 397\u2013408.","DOI":"10.1111\/cen.13518"},{"key":"147","doi-asserted-by":"crossref","unstructured":"147. Wisniewski, AB, Batista, RL, Costa, EMF, Finlayson, C, Sircili, MHP, D\u00e9nes, FT, et al. Management of 46,XY differences\/disorders of sex development (DSD) throughout life. Endocr Rev 2019;40: 1547\u201372.","DOI":"10.1210\/er.2019-00049"},{"key":"148","doi-asserted-by":"crossref","unstructured":"148. Snyder, PJ, Kopperdahl, DL, Stephens-Shields, AJ, Ellenberg, SS, Cauley, JA, Ensrud, KE, et al. Effect of testosterone treatment on volumetric bone density and strength in older men with low testosterone: A controlled clinical trial. JAMA Intern Med 2017;177: 471\u20139.","DOI":"10.1001\/jamainternmed.2016.9539"},{"key":"149","doi-asserted-by":"crossref","unstructured":"149. Jayasena, CN, Anderson, RA, Llahana, S, Barth, JH, MacKenzie, F, Wilkes, S, et al. Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism. Clin Endocrinol (Oxf) 2022;96: 200\u201319.","DOI":"10.1111\/cen.14633"},{"key":"150","doi-asserted-by":"crossref","unstructured":"150. Birnbaum, W, Bertelloni, S. Sex hormone replacement in disorders of sex development. Endocr Dev 2014;27: 149\u201359.","DOI":"10.1159\/000363640"},{"key":"151","doi-asserted-by":"crossref","unstructured":"151. Ferlin, A, Schipilliti, M, Vinanzi, C, Garolla, A, Di Mambro, A, Selice, R, et al. Bone mass in subjects with Klinefelter syndrome: role of testosterone levels and androgen receptor gene CAG polymorphism. J Clin Endocrinol Metab 2011;96: E739\u201345.","DOI":"10.1210\/jc.2010-1878"},{"key":"152","doi-asserted-by":"crossref","unstructured":"152. Tahani, N, Nieddu, L, Prossomariti, G, Spaziani, M, Granato, S, Carlomagno, F, et al. Long-term effect of testosterone replacement therapy on bone in hypogonadal men with Klinefelter Syndrome. Endocrine 2018;61: 327\u201335.","DOI":"10.1007\/s12020-018-1604-6"},{"key":"153","doi-asserted-by":"crossref","unstructured":"153. Jo, DG, Lee, HS, Joo, YM, Seo, JT. Effect of testosterone replacement therapy on bone mineral density in patients with Klinefelter syndrome. Yonsei Med J 2013;54: 1331\u20135.","DOI":"10.3349\/ymj.2013.54.6.1331"},{"key":"154","doi-asserted-by":"crossref","unstructured":"154. Stagi, S, Di Tommaso, M, Manoni, C, Scalini, P, Chiarelli, F, Verrotti, A, et al. Bone mineral status in children and adolescents with Klinefelter syndrome. Int J Endocrinol 2016;2016: 3032759.","DOI":"10.1155\/2016\/3032759"},{"key":"155","doi-asserted-by":"crossref","unstructured":"155. Ferlin, A, Selice, R, Di Mambro, A, Ghezzi, M, Di Nisio, A, Caretta, N, et al. Role of vitamin D levels and vitamin D supplementation on bone mineral density in Klinefelter syndrome. Osteoporos Int 2015;26: 2193\u2013202.","DOI":"10.1007\/s00198-015-3136-8"},{"key":"156","doi-asserted-by":"crossref","unstructured":"156. Ostertag, A, Papadakis, GE, Collet, C, Trabado, S, Maione, L, Pitteloud, N, et al. Compromised volumetric bone density and microarchitecture in men with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2021;106: e3312\u201326.","DOI":"10.1210\/clinem\/dgab169"},{"key":"157","doi-asserted-by":"crossref","unstructured":"157. Szybiak, W, Kujawa, B, Miedziaszczyk, M, Lacka, K. Effect of growth hormone and estrogen replacement therapy on bone mineral density in women with Turner syndrome: A meta-analysis and systematic review. Pharmaceuticals (Basel) 2023;16: 1320.","DOI":"10.3390\/ph16091320"},{"key":"158","doi-asserted-by":"publisher","unstructured":"158. Cintron, D, Rodriguez-Gutierrez, R, Serrano, V, Latortue-Albino, P, Erwin, PJ, Murad, MH. Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis. Endocrine 2017;55: 366\u201375.","DOI":"10.1007\/s12020-016-1046-y"},{"key":"159","doi-asserted-by":"crossref","unstructured":"159. Gomez-Lobo, V, Amies Oelschlager, AM, North American Society for Pediatric and Adolescent Gynecology. Disorders of Sexual Development in Adult Women. Obstet Gynecol 2016;128: 1162\u201373.","DOI":"10.1097\/AOG.0000000000001672"},{"key":"160","doi-asserted-by":"crossref","unstructured":"160. Gravholt, CH, Naeraa, RW, Nyholm, B, Gerdes, LU, Christiansen, E, Schmitz, O, et al. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner\u2019s syndrome. The impact of sex hormone replacement. Diabetes Care 1998;21: 1062\u201370.","DOI":"10.2337\/diacare.21.7.1062"},{"key":"161","doi-asserted-by":"crossref","unstructured":"161. Viuff, MH, Berglund, A, Juul, S, Andersen, NH, Stochholm, K, Gravholt, CH. Sex hormone replacement therapy in Turner syndrome: Impact on morbidity and mortality. J Clin Endocrinol Metab 2020;105: 468\u201378.","DOI":"10.1210\/clinem\/dgz039"},{"key":"162","doi-asserted-by":"crossref","unstructured":"162. Hewitt, J, Zacharin, M. Hormone replacement in disorders of sex development: Current thinking. Best Pract Res Clin Endocrinol Metab 2015;29: 437\u201347.","DOI":"10.1016\/j.beem.2015.03.002"},{"key":"163","doi-asserted-by":"crossref","unstructured":"163. Mizunuma, H, Soda, M, Okano, H, Kagami, I, Miyamoto, S, Ohsawa, M, et al. Changes in bone mineral density after orchidectomy and hormone replacement therapy in individuals with androgen insensitivity syndrome. Hum Reprod 1998;13(1O): 2816\u20138.","DOI":"10.1093\/humrep\/13.10.2816"},{"key":"164","doi-asserted-by":"crossref","unstructured":"164. Birnbaum, W, Marshall, L, Werner, R, Kulle, A, Holterhus, PM, Rall, K, et al. Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial. Lancet Diabetes Endocrinol 2018;6: 771\u201380.","DOI":"10.1016\/S2213-8587(18)30197-9"},{"key":"165","doi-asserted-by":"crossref","unstructured":"165. Auer, MK, Birnbaum, W, Hartmann, MF, Holterhus, PM, Kulle, A, Lux, A, et al. Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome. Endocrine 2022;76: 722\u201332.","DOI":"10.1007\/s12020-022-03017-8"},{"key":"166","doi-asserted-by":"crossref","unstructured":"166. Ladjouze, A, Donaldson, M. Primary gonadal failure. Best Pract Res Clin Endocrinol Metab 2019;33: 101295.","DOI":"10.1016\/j.beem.2019.101295"},{"key":"167","doi-asserted-by":"crossref","unstructured":"167. Nowotny, HF, Reisch, N. Challenges Waiting for an Adult with DSD. Horm Res Paediatr 2023;96: 207\u201321.","DOI":"10.1159\/000527433"},{"key":"168","doi-asserted-by":"crossref","unstructured":"168. Pizzocaro, A, Vena, W, Condorelli, R, Radicioni, A, Rastrelli, G, Pasquali, D, et al. King, Klinefelter ItaliaN Group. Testosterone treatment in male patients with Klinefelter syndrome: a systematic review and meta-analysis. J Endocrinol Invest 2020;43: 1675\u201387.","DOI":"10.1007\/s40618-020-01299-1"},{"key":"169","doi-asserted-by":"crossref","unstructured":"169. Falhammar, H, Fris\u00e9n, L, Hirschberg, AL, Nordenskj\u00f6ld, A, Almqvist, C, Nordenstr\u00f6m, A. Increased prevalence of fractures in congenital adrenal hyperplasia: a swedish population-based national cohort study. J Clin Endocrinol Metab 2022;107: e475\u201386.","DOI":"10.1210\/clinem\/dgab712"},{"key":"170","doi-asserted-by":"crossref","unstructured":"170. Gravholt, CH, Jensen, AS, H\u00f8st, C, Bojesen, A. Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome. Acta Paediatr 2011;100: 871\u20137.","DOI":"10.1111\/j.1651-2227.2011.02233.x"},{"key":"171","doi-asserted-by":"crossref","unstructured":"171. de Vries, ALC, Roehle, R, Marshall, L, Fris\u00e9n, L, van de Grift, TC, Kreukels, BPC, et al. dsd-LIFE Group. Mental health of a large group of adults with disorders of sex development in six European countries. Psychosom Med 2019;81: 629\u201340.","DOI":"10.1097\/PSY.0000000000000718"},{"key":"172","doi-asserted-by":"crossref","unstructured":"172. Falhammar, H, Butwicka, A, Land\u00e9n, M, Lichtenstein, P, Nordenskj\u00f6ld, A, Nordenstr\u00f6m, A, et al. Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014;99: E554\u201360.","DOI":"10.1210\/jc.2013-3707"},{"key":"173","doi-asserted-by":"crossref","unstructured":"173. Verhees, MJM, Engels, M, Span, PN, Sweep, FCGJ, van Herwaarden, AE, Falhammar, H, et al. Quality of life in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Front Endocrinol (Lausanne) 2021;12: 626646.","DOI":"10.3389\/fendo.2021.626646"},{"key":"174","doi-asserted-by":"crossref","unstructured":"174. Liedmeier, A, Jendryczko, D, van der Grinten, HC, Rapp, M, Thyen, U, Pienkowski, C, et al. Psychosocial well-being and quality of life in women with Turner syndrome. Psychoneuroendocrinology 2020;113: 104548.","DOI":"10.1016\/j.psyneuen.2019.104548"},{"key":"175","doi-asserted-by":"crossref","unstructured":"175. Cederl\u00f6f, M, Ohlsson Gotby, A, Larsson, H, Serlachius, E, Boman, M, L\u00e5ngstr\u00f6m, N, et al. Klinefelter syndrome and risk of psychosis, autism and ADHD. J Psychiatr Res 2014;48: 128\u201330.","DOI":"10.1016\/j.jpsychires.2013.10.001"},{"key":"176","doi-asserted-by":"crossref","unstructured":"176. Amaral, RC, Inacio, M, Brito, VN, Bachega, TASS, Domenice, S, Arnhold, IJ, et al. Quality of life of patients with 46,XX and 46,XY disorders of sex development. Clin Endocrinol (Oxf) 2015;82: 159\u201364.","DOI":"10.1111\/cen.12561"},{"key":"177","doi-asserted-by":"crossref","unstructured":"177. Bennecke, E, Thyen, U, Gr\u00fcters, A, Lux, A, K\u00f6hler, B. Health-related quality of life and psychological well-being in adults with differences\/disorders of sex development. Clin Endocrinol (Oxf) 2017;86: 634\u201343.","DOI":"10.1111\/cen.13296"},{"key":"178","doi-asserted-by":"crossref","unstructured":"178. Di, H, Wen, Y, Li, Y. Preoperative hormone therapy in single-stage repair of hypospadias: A comprehensive systematic review. J Pediatr Urol 2023;19: 250\u201360.","DOI":"10.1016\/j.jpurol.2023.01.013"},{"key":"179","doi-asserted-by":"crossref","unstructured":"179. Li, B, Kong, I, McGrath, M, Farrokhyar, F, Braga, LH. Evaluating the literature on preoperative androgen stimulation for hypospadias repair using the fragility index - can we trust observational studies?J Pediatr Urol 2021;17: 661\u20139.","DOI":"10.1016\/j.jpurol.2021.07.027"},{"key":"180","doi-asserted-by":"crossref","unstructured":"180. Chua, ME, Gnech, M, Ming, JM, Silangcruz, JM, Sanger, S, Lopes, RI, et al. Preoperative hormonal stimulation effect on hypospadias repair complications: Meta-analysis of observational versus randomized controlled studies. J Pediatr Urol 2017;13: 470\u201380.","DOI":"10.1016\/j.jpurol.2017.06.019"},{"key":"181","doi-asserted-by":"crossref","unstructured":"181. Babu, R, Chakravarthi, S. The role of preoperative intra muscular testosterone in improving functional and cosmetic outcomes following hypospadias repair: A prospective randomized study. J Pediatr Urol 2018;14: 29.e1\u20136.","DOI":"10.1016\/j.jpurol.2017.07.009"},{"key":"182","doi-asserted-by":"crossref","unstructured":"182. de Andrade, EC, de Castro Paiva, KC, da Silva Guedes, S, Souza, MLC, Pereira, MN, Miana, LP, et al. Echocardiographic evaluation of left ventricular mass index in children with hypospadias after hormonal stimulation with topical testosterone: A randomized controlled trial. J Pediatr Urol 2017;13: 352.e1\u20137.","DOI":"10.1016\/j.jpurol.2017.03.019"},{"key":"183","doi-asserted-by":"crossref","unstructured":"183. Menon, P, Rao, KLN, Handu, A, Balan, L, Kakkar, N. Outcome of urethroplasty after parenteral testosterone in children with distal hypospadias. J Pediatr Urol 2017;13: 292.e1\u20137.","DOI":"10.1016\/j.jpurol.2017.01.001"},{"key":"184","doi-asserted-by":"crossref","unstructured":"184. Paiva, KC C, Bastos, AN, Miana, LP, Barros, ES, Ramos, PS, Miranda, LM, et al. Biometry of the hypospadic penis after hormone therapy (testosterone and estrogen): A randomized, double-blind controlled trial. J Pediatr Urol 2016;12: 200.e1\u20136.","DOI":"10.1016\/j.jpurol.2016.04.013"},{"key":"185","doi-asserted-by":"crossref","unstructured":"185. Chen, C, Gong, CX, Zhang, WP. Effects of oral testosterone undecanoate treatment for severe hypospadias. Int Urol Nephrol 2015;47: 875\u201380.","DOI":"10.1007\/s11255-015-0972-6"},{"key":"186","doi-asserted-by":"crossref","unstructured":"186. Nerli, RB, Koura, A, Prabha, V, Reddy, M. Comparison of topical versus parenteral testosterone in children with microphallic hypospadias. Pediatr Surg Int 2009;25: 57\u20139.","DOI":"10.1007\/s00383-008-2278-6"},{"key":"187","doi-asserted-by":"crossref","unstructured":"187. Kaya, C, Bektic, J, Radmayr, C, Schwentner, C, Bartsch, G, Oswald, J. The efficacy of dihydrotestosterone transdermal gel before primary hypospadias surgery: a prospective, controlled, randomized study. J Urol 2008;179: 684\u20138.","DOI":"10.1016\/j.juro.2007.09.098"},{"key":"188","doi-asserted-by":"crossref","unstructured":"188. Morin, J, Peard, L, Vanadurongvan, T, Walker, J, D\u00f6nmez, M\u0130, Saltzman, AF. Oncologic outcomes of pre-malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review. J Pediatr Urol 2020;16: 576\u201382.","DOI":"10.1016\/j.jpurol.2020.05.002"},{"key":"189","doi-asserted-by":"crossref","unstructured":"189. Morin, J, Peard, L, Saltzman, AF. Gonadal malignancy in patients with differences of sex development. Transl Androl Urol 2020;9: 2408\u201315.","DOI":"10.21037\/tau-19-726"},{"key":"190","doi-asserted-by":"crossref","unstructured":"190. Peard, LM, Morin, J, Flores, V, Graham, K, Taylor, AS, Pope, JC, et al. Gonadal tumors in a contemporary cohort of patients with differences in sex development undergoing surgery - A multi-site study from the Pediatric Urologic Oncology Working Group of the societies for pediatric urology. J Pediatr Urol 2023;19: 399.e1\u20138.","DOI":"10.1016\/j.jpurol.2023.04.008"},{"key":"191","doi-asserted-by":"crossref","unstructured":"191. Lucas-Herald, AK, Bryce, J, Kyriakou, A, Ljubicic, ML, Arlt, W, Audi, L, et al. Gonadectomy in conditions affecting sex development: a registry-based cohort study. Eur J Endocrinol 2021;184: 791\u2013801.","DOI":"10.1530\/EJE-20-1058"},{"key":"192","doi-asserted-by":"crossref","unstructured":"192. Spoor, JA, Oosterhuis, JW, Hersmus, R, Biermann, K, Wolffenbuttel, KP, Cools, M, et al. Histological assessment of gonads in DSD: Relevance for clinical management. Sex Dev 2018;12: 106\u201322.","DOI":"10.1159\/000481757"},{"key":"193","doi-asserted-by":"crossref","unstructured":"193. Huang, H, Wang, C, Tian, Q. Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. Clin Endocrinol (Oxf) 2017;86: 621\u20137.","DOI":"10.1111\/cen.13255"},{"key":"194","doi-asserted-by":"crossref","unstructured":"194. Guerrero-Fern\u00e1ndez, J, Gonz\u00e1lez-Peramato, P, Rodr\u00edguez Est\u00e9vez, A, Alc\u00e1zar Villar, MJ, Aud\u00ed Parera, L, Azcona San Juli\u00e1n, MC, et al. Consensus guide on prophylactic gonadectomy in different sex development. Endocrinol Diabetes Nutr (Engl Ed) 2022;69: 629\u201345.","DOI":"10.1016\/j.endien.2022.10.002"},{"key":"195","doi-asserted-by":"crossref","unstructured":"195. Kudela, G, Gawlik, A, Koszutski, T. Early feminizing genitoplasty in girls with congenital adrenal hyperplasia (CAH)-analysis of unified surgical management. Int J Environ Res Public Health 2020;17: 3852.","DOI":"10.3390\/ijerph17113852"},{"key":"196","doi-asserted-by":"crossref","unstructured":"196. Johnson, EK, Whitehead, J, Cheng, EY. Differences of sex development: current issues and controversies. Urol Clin North Am 2023;50: 433\u201346.","DOI":"10.1016\/j.ucl.2023.04.010"},{"key":"197","doi-asserted-by":"crossref","unstructured":"197. Flewelling, KD, De Jesus Ayala, S, Chan, YM, Chen, D, Daswani, S, Hansen-Moore, J, et al. Surgical experiences in adolescents and young adults with differences of sex development: A qualitative examination. J Pediatr Urol 2022;18: 353.e1\u201310.","DOI":"10.1016\/j.jpurol.2022.02.028"},{"key":"198","doi-asserted-by":"crossref","unstructured":"198. Bangalore Krishna, K, Kogan, BA, Mazur, T, Hoebeke, P, Bogaert, G, Lee, PA. Individualized care for patients with intersex (differences of sex development): part 4\/5.Considering the Ifs, Whens, and Whats regarding sexual-reproductive system surgery. J Pediatr Urol 2021;17: 338\u201345.","DOI":"10.1016\/j.jpurol.2021.02.011"},{"key":"199","doi-asserted-by":"crossref","unstructured":"199. Weidler, EM, Grimsby, G, Garvey, EM, Zwayne, N, Chawla, R, Hernandez, J, et al. Evolving indications for surgical intervention in patients with differences\/disorders of sex development: Implications of deferred reconstruction. Semin Pediatr Surg 2020;29: 150929.","DOI":"10.1016\/j.sempedsurg.2020.150929"},{"key":"200","doi-asserted-by":"crossref","unstructured":"200. Bennecke, E, Bernstein, S, Lee, P, van de Grift, TC, Nordenskj\u00f6ld, A, Rapp, M, et al. dsd-LIFE Group. Early genital surgery in disorders\/differences of sex development: patients\u2019 perspectives. Arch Sex Behav 2021;50: 913\u201323.","DOI":"10.1007\/s10508-021-01953-6"},{"key":"201","doi-asserted-by":"crossref","unstructured":"201. Sandberg, DE, Gardner, M, Cohen-Kettenis, PT. Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 2012;30: 443\u201352.","DOI":"10.1055\/s-0032-1324729"},{"key":"202","doi-asserted-by":"crossref","unstructured":"202. Baskin, A, Wisniewski, AB, Aston, CE, Austin, P, Chan, YM, Cheng, EY, et al. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study. J Pediatr Urol 2020;16: 568\u201375.","DOI":"10.1016\/j.jpurol.2020.05.166"},{"key":"203","doi-asserted-by":"crossref","unstructured":"203. Ellerkamp, V, Rall, KK, Schaefer, J, Stefanescu, D, Schoeller, D, Brucker, S, et al. Surgical therapy after failed feminizing genitoplasty in young adults with disorders of sex development: retrospective analysis and review of the literature. J Sex Med 2021;18: 1797\u2013806.","DOI":"10.1016\/j.jsxm.2021.07.008"},{"key":"204","doi-asserted-by":"crossref","unstructured":"204. Bianchi, S, Berlanda, N, Brunetti, F, Bulfoni, A, Ferrero Caroggio, C, Fedele, L. Creation of a neovagina by laparoscopic modified Davydov vaginoplasty in patients with partial androgen insensitivity syndrome. J Minim Invasive Gynecol 2017;24: 1211\u20137.","DOI":"10.1016\/j.jmig.2017.08.006"},{"key":"205","doi-asserted-by":"crossref","unstructured":"205. Rapp, M, Duranteau, L, van de Grift, TC, Schober, J, Hirschberg, AL, Krege, S, et al. dsd-LIFE group. Self- and proxy-reported outcomes after surgery in people with disorders\/differences of sex development (DSD) in Europe (dsd-LIFE). J Pediatr Urol 2021;17: 353\u201365.","DOI":"10.1016\/j.jpurol.2020.12.007"},{"key":"206","doi-asserted-by":"crossref","unstructured":"206. Szymanski, KM, Kokorowski, P, Braga, LH, Frady, H, Whittam, B, Hensel, DJ, Life with Congenital Adrenal Hyperplasia Study Group. Growing up with clitoromegaly: experiences of North American women with congenital adrenal hyperplasia. J Pediatr Urol 2022;18: 775\u201383.","DOI":"10.1016\/j.jpurol.2022.05.016"},{"key":"207","doi-asserted-by":"crossref","unstructured":"207. Almasri, J, Zaiem, F, Rodriguez-Gutierrez, R, Tamhane, SU, Iqbal, AM, Prokop, LJ, et al. Genital reconstructive surgery in females with congenital adrenal hyperplasia: A systematic review and meta-analysis. J Clin Endocrinol Metab 2018;103: 4089\u201396.","DOI":"10.1210\/jc.2018-01863"},{"key":"208","doi-asserted-by":"crossref","unstructured":"208. de Neve-Enthoven, NGM, Callens, N, van Kuyk, M, Verhaak, CM, van der Ende, J, Drop, SLS, et al. Dutch Study Group on DSD. Sexual Self-concept in women with disorders\/differences of sex development. Arch Sex Behav 2022;51: 2213\u201329.","DOI":"10.1007\/s10508-021-02188-1"},{"key":"209","doi-asserted-by":"crossref","unstructured":"209. Callens, N, Kreukels, BPC, van de Grift, TC. Young voices: sexual health and transition care needs in adolescents with intersex\/differences of sex development-a pilot study. J Pediatr Adolesc Gynecol 2021;34: 176\u2013189.e2.","DOI":"10.1016\/j.jpag.2020.11.001"},{"key":"210","doi-asserted-by":"crossref","unstructured":"210. Harris, RM, Chan, YM. Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes 2019;26: 49\u201353.","DOI":"10.1097\/MED.0000000000000460"},{"key":"211","doi-asserted-by":"crossref","unstructured":"211. Wisniewski, AB, Tishelman, AC. Psychological perspectives to early surgery in the management of disorders\/differences of sex development. Curr Opin Pediatr 2019;31: 570\u20134.","DOI":"10.1097\/MOP.0000000000000784"},{"key":"212","doi-asserted-by":"crossref","unstructured":"212. Delozier, AM, Gamwell, KL, Sharkey, C, Bakula, DM, Perez, MN, Wolfe-Christensen, C, et al. Uncertainty and posttraumatic stress: Differences between mothers and fathers of infants with disorders of sex development. Arch Sex Behav 2019;48: 1617\u201324.","DOI":"10.1007\/s10508-018-1357-6"},{"key":"213","doi-asserted-by":"crossref","unstructured":"213. Sandberg, DE, Gardner, M. Differences\/disorders of sex development: Medical conditions at the intersection of sex and gender. Annu Rev Clin Psychol 2022;18: 201\u201331.","DOI":"10.1146\/annurev-clinpsy-081219-101412"},{"key":"214","doi-asserted-by":"crossref","unstructured":"214. Ernst, MM, Liao, LM, Baratz, AB, Sandberg, DE. Disorders of sex development\/intersex: Gaps in psychosocial care for children. Pediatrics 2018;142: e20174045.","DOI":"10.1542\/peds.2017-4045"},{"key":"215","doi-asserted-by":"crossref","unstructured":"215. Lee, PA, Nordenstr\u00f6m, A, Houk, CP, Ahmed, SF, Auchus, R, Baratz, A, et al. Global DSD Update Consortium. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 2016;85: 158\u201380.","DOI":"10.1159\/000442975"},{"key":"216","doi-asserted-by":"crossref","unstructured":"216. Weidler, EM, Baratz, A, Muscarella, M, Hernandez, SJ, van Leeuwen, K. A shared decision-making tool for individuals living with complete androgen insensitivity syndrome. Semin Pediatr Surg 2019;28: 150844.","DOI":"10.1016\/j.sempedsurg.2019.150844"},{"key":"217","doi-asserted-by":"crossref","unstructured":"217. Karkazis, K, Tamar-Mattis, A, Kon, AA. Genital surgery for disorders of sex development: implementing a shared decision-making approach. J Pediatr Endocrinol Metab 2010;23: 789\u2013805.","DOI":"10.1515\/jpem.2010.129"},{"key":"218","unstructured":"218. Austin, J, Tamar-Mattis, A, Mazur, T, Henwood, MJ, Rossi, WC. Disorders of sex development-when and how to tell the patient. Pediatr Endocrinol Rev 2011;8: 213\u20137, quiz 223."},{"key":"219","doi-asserted-by":"crossref","unstructured":"219. Weidler, EM, Suorsa-Johnson, KI, Baskin, AS, Fagerlin, A, Gardner, MD, Rutter, MM, et al. \u201cIt became easier once I knew\u201d: Stakeholder perspectives for educating children and teenagers about their difference of sex development. Patient Educ Couns 2023;113: 107763.","DOI":"10.1016\/j.pec.2023.107763"},{"key":"220","doi-asserted-by":"crossref","unstructured":"220. Lundberg, T, Roen, K, Hirschberg, AL, Fris\u00e9n, L. \u201cit\u2019s part of me, not all of me\u201d: Young women\u2019s experiences of receiving a diagnosis related to diverse sex development. J Pediatr Adolesc Gynecol 2016;29: 338\u201343.","DOI":"10.1016\/j.jpag.2015.11.009"},{"key":"221","doi-asserted-by":"crossref","unstructured":"221. van de Grift, TC. dsd-LIFECondition openness is associated with better mental health in individuals with an intersex\/differences of sex development condition: structural equation modeling of European multicenter data. Psychol Med 2023;53: 2229\u201340.","DOI":"10.1017\/S0033291721004001"},{"key":"222","doi-asserted-by":"crossref","unstructured":"222. Franik, S, Fleischer, K, Kortmann, B, Stikkelbroeck, NM, D\u2019Hauwers, K, Bouvattier, C, et al. Quality of life in men with Klinefelter syndrome: a multicentre study. Endocr Connect 2023;12: e230111.","DOI":"10.1530\/EC-23-0111"},{"key":"223","doi-asserted-by":"crossref","unstructured":"223. Seleveindran, M, Syed Zakaria, SZ, Jalaludin, MY, Rasat, R. Quality of life in children with disorders of sex development. Horm Res Paediatr 2017;88: 324\u201330.","DOI":"10.1159\/000478780"},{"key":"224","doi-asserted-by":"crossref","unstructured":"224. J\u00fcrgensen, M, Lux, A, Wien, SB, Kleinemeier, E, Hiort, O, Thyen, U. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 2014;173: 893\u2013903.","DOI":"10.1007\/s00431-014-2264-z"},{"key":"225","doi-asserted-by":"crossref","unstructured":"225. Bajszczak, K, Szarras-Czapnik, M, Walczak-J\u0119drzejowska, R, Marchlewska, K, Slowikowska-Hilczer, J. The risk of mental disorders in patients with disorders\/differences of sex differentiation\/development (DSD) and Y chromosome. Endokrynol Pol 2020;71: 168\u201375.","DOI":"10.5603\/EP.a2020.0005"},{"key":"226","doi-asserted-by":"crossref","unstructured":"226. \u015eent\u00fcrk Pilan, B, \u00d6zbaran, B, \u00c7elik, D, \u00d6zcan, T, \u00d6zen, S, G\u00f6k\u015fen, D, et al. Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital. J Pediatr Endocrinol Metab 2020;33: 605\u201311.","DOI":"10.1515\/jpem-2019-0513"},{"key":"227","doi-asserted-by":"crossref","unstructured":"227. Khorashad, BS, Aghili, Z, Kreukels, BPC, Reid, AG, Roshan, GM, Hiradfar, M, et al. Mental health and disorders of sex development\/intersex conditions in Iranian culture: Congenital adrenal hyperplasia, 5-\u03b1 reductase deficiency-type 2, and complete androgen insensitivity syndrome. Arch Sex Behav 2018;47: 931\u201342.","DOI":"10.1007\/s10508-017-1139-6"},{"key":"228","doi-asserted-by":"crossref","unstructured":"228. Johannsen, TH, Ripa, CP, Mortensen, EL, Main, KM. Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 2006;155: 877\u201385.","DOI":"10.1530\/eje.1.02294"},{"key":"229","doi-asserted-by":"crossref","unstructured":"229. Liedmeier, A, Jendryczko, D, Rapp, M, Roehle, R, Thyen, U, Kreukels, BPC, dsd-LIFE group. The influence of psychosocial and sexual wellbeing on quality of life in women with differences of sexual development. Compr Psychoneuroendocrinol 2021;8: 100087.","DOI":"10.1016\/j.cpnec.2021.100087"},{"key":"230","doi-asserted-by":"crossref","unstructured":"230. J\u00fcrgensen, M, Kleinemeier, E, Lux, A, Steensma, TD, Cohen-Kettenis, PT, Hiort, O, et al. DSD Network Working Group. Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study. J Sex Med 2013;10: 2703\u201314.","DOI":"10.1111\/j.1743-6109.2012.02751.x"},{"key":"231","doi-asserted-by":"crossref","unstructured":"231. de Brouwer, IJ, Suijkerbuijk, M, van de Grift, TC, Kreukels, BPC. First adolescent romantic and sexual experiences in individuals with differences of sex development\/intersex conditions. J Adolesc Health 2022;71: 688\u201395.","DOI":"10.1016\/j.jadohealth.2022.07.012"},{"key":"232","doi-asserted-by":"crossref","unstructured":"232. Kleinemeier, E, J\u00fcrgensen, M, Lux, A, Widenka, PM, Thyen, U, Disorders of Sex Development Network Working Group. Psychological adjustment and sexual development of adolescents with disorders of sex development. J Adolesc Health 2010;47: 463\u201371.","DOI":"10.1016\/j.jadohealth.2010.03.007"},{"key":"233","doi-asserted-by":"crossref","unstructured":"233. Kreukels, BPC, Cohen-Kettenis, PT, Roehle, R, van de Grift, TC, Slowikowska-Hilczer, J, Claahsen-van der Grinten, H, et al. Sexuality in adults with differences\/disorders of sex development (DSD): Findings from the dsd-LIFE study. J Sex Marital Ther 2019;45: 688\u2013705.","DOI":"10.1080\/0092623X.2019.1610123"},{"key":"234","doi-asserted-by":"crossref","unstructured":"234. Wang, C, Tian, Q. The investigation of quality of life in 87 Chinese patients with disorders of sex development. BioMed Res Int 2015;2015: 342420.","DOI":"10.1155\/2015\/342420"},{"key":"235","doi-asserted-by":"crossref","unstructured":"235. D\u2019Alberton, F, Assante, MT, Foresti, M, Balsamo, A, Bertelloni, S, Dati, E, et al. Quality of life and psychological adjustment of women living with 46,XY differences of sex development. J Sex Med 2015;12: 1440\u20139.","DOI":"10.1111\/jsm.12884"},{"key":"236","unstructured":"236. Lee, PA, Houk, CP. Long-term outcome and adjustment among patients with DSD born with testicular differentiation and masculinized external genital genitalia. Pediatr Endocrinol Rev 2012;10: 140\u201351."},{"key":"237","doi-asserted-by":"crossref","unstructured":"237. Cassia Amaral, R, Inacio, M, Brito, VN, Bachega, TASS, Oliveira, AA, Domenice, S, et al. Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre. Clin Endocrinol (Oxf) 2015;82: 274\u20139.","DOI":"10.1111\/cen.12572"},{"key":"238","doi-asserted-by":"crossref","unstructured":"238. Kavanaugh, GL, Mohnach, L, Youngblom, J, Kellison, JG, Sandberg, DE, Accord, A. \u201cGood practices\u201d in pediatric clinical care for disorders\/differences of sex development. Endocrine 2021;73: 723\u201333.","DOI":"10.1007\/s12020-021-02748-4"},{"key":"239","doi-asserted-by":"crossref","unstructured":"239. Chowdhury, TK, Chowdhury, MZ, Mili, F, Hutson, JM, Banu, T. Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood. Pediatr Surg Int 2014;30: 527\u201332.","DOI":"10.1007\/s00383-014-3486-x"},{"key":"240","doi-asserted-by":"crossref","unstructured":"240. Kreukels, BPC, K\u00f6hler, B, Nordenstr\u00f6m, A, Roehle, R, Thyen, U, Bouvattier, C, et al. dsd-LIFE group. Gender dysphoria and gender change in disorders of sex development\/intersex conditions: results from the dsd-LIFE study. J Sex Med 2018;15: 777\u201385.","DOI":"10.1016\/j.jsxm.2018.02.021"},{"key":"241","doi-asserted-by":"crossref","unstructured":"241. \u015eent\u00fcrk Pilan, B, \u00d6zbaran, B, \u00c7elik, D, \u00d6zcan, T, \u00d6zen, S, G\u00f6k\u015fen, D, et al. Quality of life and psychological well-being in children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol 2021;13: 23\u201333.","DOI":"10.4274\/jcrpe.galenos.2020.2020.0141"},{"key":"242","doi-asserted-by":"crossref","unstructured":"242. Warne, GL. Long-term outcome of disorders of sex development. Sex Dev 2008;2: 268\u201377.","DOI":"10.1159\/000152043"},{"key":"243","doi-asserted-by":"crossref","unstructured":"243. Cull, ML, Simmonds, M. Importance of support groups for intersex (disorders of sex development) patients, families and the medical profession. Sex Dev 2010;4: 310\u20132.","DOI":"10.1159\/000313889"},{"key":"244","doi-asserted-by":"crossref","unstructured":"244. Boucher, NA, Alkazemi, MH, Tejwani, R, Routh, JC. Parents of children with newly diagnosed disorders of sex development identify major concerns: A qualitative study. Urology 2022;164: 218\u201323.","DOI":"10.1016\/j.urology.2022.01.001"},{"key":"245","doi-asserted-by":"crossref","unstructured":"245. Alpern, AN, Gardner, M, Kogan, B, Sandberg, DE, Quittner, AL. Development of health-related quality of life instruments for young children with disorders of sex development (DSD) and their parents. J Pediatr Psychol 2017;42: 544\u201358.","DOI":"10.1093\/jpepsy\/jsw022"},{"key":"246","doi-asserted-by":"crossref","unstructured":"246. Roberts, CM, Sharkey, CM, Bakula, DM, Perez, MN, Delozier, AJ, Austin, PF, et al. Illness uncertainty longitudinally predicts distress among caregivers of children born with DSD. J Pediatr Psychol 2020;45: 1053\u201362.","DOI":"10.1093\/jpepsy\/jsaa069"},{"key":"247","doi-asserted-by":"crossref","unstructured":"247. de Silva, KSH, de Zoysa, P, Dilanka, WMS, Dissanayake, BS. Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka. J Pediatr Endocrinol Metab 2014;27: 475\u20138.","DOI":"10.1515\/jpem-2013-0267"},{"key":"248","doi-asserted-by":"crossref","unstructured":"248. Perez, MN, Clawson, AH, Baudino, MN, Austin, PF, Baskin, LS, Chan, YM, et al. Distress trajectories for parents of children with DSD: A growth mixture model. J Pediatr Psychol 2021;46: 588\u201398.","DOI":"10.1093\/jpepsy\/jsab004"},{"key":"249","doi-asserted-by":"crossref","unstructured":"249. Wolfe-Christensen, C, Fedele, DA, Kirk, K, Mullins, LL, Lakshmanan, Y, Wisniewski, AB. Caregivers of children with a disorder of sex development: associations between parenting capacities and psychological distress. J Pediatr Urol 2014;10: 538\u201343.","DOI":"10.1016\/j.jpurol.2013.11.016"},{"key":"250","doi-asserted-by":"crossref","unstructured":"250. Traino, KA, Roberts, CM, Fisher, RS, Delozier, AM, Austin, PF, Baskin, LS, et al. Stigma, intrusiveness, and distress in parents of children with a disorder\/difference of sex development. J Dev Behav Pediatr 2022;43: e473\u201382.","DOI":"10.1097\/DBP.0000000000001077"},{"key":"251","doi-asserted-by":"crossref","unstructured":"251. Wisniewski, AB. Psychosocial implications of disorders of sex development treatment for parents. Curr Opin Urol 2017;27: 11\u20133.","DOI":"10.1097\/MOU.0000000000000344"},{"key":"252","doi-asserted-by":"crossref","unstructured":"252. Kirk, KD, Fedele, DA, Wolfe-Christensen, C, Phillips, TM, Mazur, T, Mullins, LL, et al. Parenting characteristics of female caregivers of children affected by chronic endocrine conditions: a comparison between disorders of sex development and type 1 diabetes mellitus. J Pediatr Nurs 2011;26: e29\u201336.","DOI":"10.1016\/j.pedn.2010.10.005"},{"key":"253","doi-asserted-by":"crossref","unstructured":"253. Rolston, AM, Gardner, M, Vilain, E, Sandberg, DE. Parental reports of stigma associated with child\u2019s disorder of sex development. Int J Endocrinol 2015;2015: 980121.","DOI":"10.1155\/2015\/980121"},{"key":"254","doi-asserted-by":"crossref","unstructured":"254. Pasterski, V, Mastroyannopoulou, K, Wright, D, Zucker, KJ, Hughes, IA. Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development. Arch Sex Behav 2014;43: 369\u201375.","DOI":"10.1007\/s10508-013-0196-8"},{"key":"255","doi-asserted-by":"crossref","unstructured":"255. Wolfe-Christensen, C, Wisniewski, AB, Mullins, AJ, Reyes, KJ, Austin, P, Baskin, L, et al. Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty. J Pediatr Urol 2017;13: 32.e1\u20136.","DOI":"10.1016\/j.jpurol.2016.10.024"},{"key":"256","doi-asserted-by":"crossref","unstructured":"256. Wolfe-Christensen, C, Fedele, DA, Mullins, LL, Lakshmanan, Y, Wisniewski, AB. Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development. J Pediatr Endocrinol Metab 2014;27: 617\u201321.","DOI":"10.1515\/jpem-2014-0102"},{"key":"257","doi-asserted-by":"crossref","unstructured":"257. Duguid, A, Morrison, S, Robertson, A, Chalmers, J, Youngson, G, Ahmed, SF, Scottish Genital Anomaly Network. The psychological impact of genital anomalies on the parents of affected children. Acta Paediatr 2007;96: 348\u201352.","DOI":"10.1111\/j.1651-2227.2006.00112.x"},{"key":"258","doi-asserted-by":"crossref","unstructured":"258. Wolfe-Christensen, C, Fedele, DA, Kirk, K, Phillips, TM, Mazur, T, Mullins, LL, et al. Degree of external genital malformation at birth in children with a disorder of sex development and subsequent caregiver distress. J Urol 2012;188(Suppl): 1596\u2013600.","DOI":"10.1016\/j.juro.2012.02.040"},{"key":"259","doi-asserted-by":"crossref","unstructured":"259. Crerand, CE, Kapa, HM, Litteral, JL, Nahata, L, Combs, B, Indyk, JA, et al. Parent perceptions of psychosocial care for children with differences of sex development. J Pediatr Urol 2019;15: 522.e1\u20138.","DOI":"10.1016\/j.jpurol.2019.06.024"},{"key":"260","doi-asserted-by":"crossref","unstructured":"260. Bennecke, E, Werner-Rosen, K, Thyen, U, Kleinemeier, E, Lux, A, J\u00fcrgensen, M, et al. Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd). Eur J Pediatr 2015;174: 1287\u201397.","DOI":"10.1007\/s00431-015-2530-8"},{"key":"261","doi-asserted-by":"crossref","unstructured":"261. Engberg, H, Strandqvist, A, Nordenstr\u00f6m, A, Butwicka, A, Nordenskj\u00f6ld, A, Hirschberg, AL, et al. Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. J Psychosom Res 2017;101: 122\u20137.","DOI":"10.1016\/j.jpsychores.2017.08.009"},{"key":"262","doi-asserted-by":"crossref","unstructured":"262. Sch\u00fctzmann, K, Brinkmann, L, Schacht, M, Richter-Appelt, H. Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development. Arch Sex Behav 2009;38: 16\u201333.","DOI":"10.1007\/s10508-007-9241-9"},{"key":"263","doi-asserted-by":"crossref","unstructured":"263. Beisert, MJ, Chodecka, AM, Walczyk-Matyja, K, Szyma\u0144ska-Pytli\u0144ska, ME, K\u0119dzia, W, Kapczuk, K. Psychological correlates of sexual self-esteem in young women with Mayer-Rokitansky-K\u00fcster-Hauser syndrome. Curr Issues Personal Psychol 2022;10: 333\u201342.","DOI":"10.5114\/cipp.2022.114044"},{"key":"264","doi-asserted-by":"crossref","unstructured":"264. Tsarna, E, Eleftheriades, A, Eleftheriades, M, Kalampokas, E, Liakopoulou, MK, Christopoulos, P. The impact of Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome on psychology, quality of life, and sexual life of patients: A systematic review. Children (Basel) 2022;9: 484.","DOI":"10.3390\/children9040484"},{"key":"265","doi-asserted-by":"crossref","unstructured":"265. Ouyang, Y, Tan, S, Yu, Y, Luo, B, Yin, W, Luo, L. Gonadal tumor and malignancy in 118 patients with disorders of sex development with Y chromosome. Int J Gynaecol Obstet 2022;158: 285\u20138.","DOI":"10.1002\/ijgo.13974"},{"key":"266","doi-asserted-by":"crossref","unstructured":"266. Wong, YS, Pang, KKY, Tam, YH. Surgery in Chinese children affected by 45,X\/46,XY disorders of sex development: A 20-year experience in a single center. J Pediatr Surg 2022;57: 1398\u2013403.","DOI":"10.1016\/j.jpedsurg.2021.05.018"},{"key":"267","doi-asserted-by":"crossref","unstructured":"267. Slowikowska-Hilczer, J, Szarras-Czapnik, M, Wolski, JK, Oszukowska, E, Hilczer, M, Jakubowski, L, et al. The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal\/adult patients. Folia Histochem Cytobiol 2015;53: 218\u201326.","DOI":"10.5603\/FHC.a2015.0021"},{"key":"268","doi-asserted-by":"crossref","unstructured":"268. Lu, L, Luo, F, Wang, X. Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies. Front Pediatr 2022;10: 856128.","DOI":"10.3389\/fped.2022.856128"},{"key":"269","doi-asserted-by":"crossref","unstructured":"269. Costanzo, M, Touzon, MS, Marino, R, Guercio, G, Ramirez, P, Mattone, MC, et al. Gonadal tumor development in 46,XX disorders of gonadal development. Eur J Endocrinol 2022;187: 451\u201362.","DOI":"10.1530\/EJE-22-0283"},{"key":"270","doi-asserted-by":"crossref","unstructured":"270. Pyle, LC, Nathanson, KL. A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development. Am J Med Genet C Semin Med Genet 2017;175: 304\u201314.","DOI":"10.1002\/ajmg.c.31562"},{"key":"271","doi-asserted-by":"crossref","unstructured":"271. Kalish, JM, Becktell, KD, Bougeard, G, Brodeur, GM, Diller, LR, Doria, AS, et al. Update on surveillance for Wilms tumor and hepatoblastoma in Beckwith-Wiedemann syndrome and other predisposition syndromes. Clin Cancer Res 2024;30: 5260\u20139.","DOI":"10.1158\/1078-0432.CCR-24-2100"},{"key":"272","doi-asserted-by":"crossref","unstructured":"272. Chemes, HE, Venara, M, Del Rey, G, Arcari, AJ, Musse, MP, Papazian, R, et al. Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy. Andrology 2015;3: 59\u201369.","DOI":"10.1111\/andr.301"},{"key":"273","doi-asserted-by":"crossref","unstructured":"273. Hersmus, R, van Bever, Y, Wolffenbuttel, KP, Biermann, K, Cools, M, Looijenga, LH. The biology of germ cell tumors in disorders of sex development. Clin Genet 2017;91: 292\u2013301.","DOI":"10.1111\/cge.12882"},{"key":"274","doi-asserted-by":"crossref","unstructured":"274. Cools, M, Drop, SLS, Wolffenbuttel, KP, Oosterhuis, JW, Looijenga, LHJ. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev 2006;27: 468\u201384.","DOI":"10.1210\/er.2006-0005"},{"key":"275","doi-asserted-by":"crossref","unstructured":"275. Chaudhry, S, Tadokoro-Cuccaro, R, Hannema, SE, Acerini, CL, Hughes, IA. Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. J Pediatr Urol 2017;13: 498.e1\u20136.","DOI":"10.1016\/j.jpurol.2017.02.013"},{"key":"276","doi-asserted-by":"crossref","unstructured":"276. Elzinga-Tinke, JE, Sirre, ME, Looijenga, LHJ, van Casteren, N, Wildhagen, MF, Dohle, GR. The predictive value of testicular ultrasound abnormalities for carcinoma in situ of the testis in men at risk for testicular cancer. Int J Androl 2010;33: 597\u2013603.","DOI":"10.1111\/j.1365-2605.2009.00997.x"},{"key":"277","doi-asserted-by":"crossref","unstructured":"277. Ahmed, SF, Achermann, JC, Arlt, W, Balen, AH, Conway, G, Edwards, ZL, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol (Oxf) 2011;75: 12\u201326.","DOI":"10.1111\/j.1365-2265.2011.04076.x"},{"key":"278","doi-asserted-by":"crossref","unstructured":"278. Kathrins, M, Kolon, TF. Malignancy in disorders of sex development. Transl Androl Urol 2016;5: 794\u20138.","DOI":"10.21037\/tau.2016.08.09"},{"key":"279","doi-asserted-by":"crossref","unstructured":"279. Ramasamy, R, Ricci, JA, Palermo, GD, Gosden, LV, Rosenwaks, Z, Schlegel, PN. Successful fertility treatment for Klinefelter\u2019s syndrome. J Urol 2009;182: 1108\u201313.","DOI":"10.1016\/j.juro.2009.05.019"},{"key":"280","doi-asserted-by":"crossref","unstructured":"280. Vorona, E, Zitzmann, M, Gromoll, J, Sch\u00fcring, AN, Nieschlag, E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab 2007;92: 3458\u201365.","DOI":"10.1210\/jc.2007-0447"},{"key":"281","doi-asserted-by":"crossref","unstructured":"281. S\u0142owikowska-Hilczer, J, Hirschberg, AL, Claahsen-van der Grinten, H, Reisch, N, Bouvattier, C, Thyen, U, et al. dsd-LIFE Group. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. Fertil Steril 2017;108: 822\u201331.","DOI":"10.1016\/j.fertnstert.2017.08.013"},{"key":"282","doi-asserted-by":"crossref","unstructured":"282. Sugawara, N, Kimura, Y, Araki, Y. Successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46, XX\/46, XY karyotype: case report. Hum Cell 2012;25: 96\u20139.","DOI":"10.1007\/s13577-012-0054-3"},{"key":"283","doi-asserted-by":"crossref","unstructured":"283. Massin, N, Bry, H, Vija, L, Maione, L, Constancis, E, Haddad, B, et al. Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss-of-function mutation. Clin Endocrinol (Oxf) 2012;77: 593\u20138.","DOI":"10.1111\/j.1365-2265.2012.04402.x"},{"key":"284","doi-asserted-by":"crossref","unstructured":"284. Bertelloni, S, Baldinotti, F, Baroncelli, GI, Caligo, MA, Peroni, D. Paternity in 5\u03b1-reductase-2 deficiency: Report of two brothers with spontaneous or assisted fertility and literature review. Sex Dev 2019;13: 55\u20139.","DOI":"10.1159\/000497400"},{"key":"285","doi-asserted-by":"crossref","unstructured":"285. Van Batavia, JP, Kolon, TF. Fertility in disorders of sex development: A review. J Pediatr Urol 2016;12: 418\u201325.","DOI":"10.1016\/j.jpurol.2016.09.015"},{"key":"286","doi-asserted-by":"crossref","unstructured":"286. Bakircioglu, ME, Tulay, P, Findikli, N, Erzik, B, Gultomruk, M, Bahceci, M. Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. J Assist Reprod Genet 2014;31: 817\u201321.","DOI":"10.1007\/s10815-014-0241-0"},{"key":"287","doi-asserted-by":"crossref","unstructured":"287. Bashamboo, A, Ferraz-de-Souza, B, Louren\u00e7o, D, Lin, L, Sebire, NJ, Montjean, D, et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet 2010;87: 505\u201312.","DOI":"10.1016\/j.ajhg.2010.09.009"},{"key":"288","doi-asserted-by":"crossref","unstructured":"288. Flannigan, RK, Chow, V, Ma, S, Yuzpe, A. 45,X\/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. Can Urol Assoc J 2014;8: E108\u201310.","DOI":"10.5489\/cuaj.1574"},{"key":"289","doi-asserted-by":"crossref","unstructured":"289. Finlayson, C, Fritsch, MK, Johnson, EK, Rosoklija, I, Gosiengfiao, Y, Yerkes, E, et al. Presence of germ cells in disorders of sex development: implications for fertility potential and preservation. J Urol 2017;197: 937\u201343.","DOI":"10.1016\/j.juro.2016.08.108"},{"key":"290","doi-asserted-by":"crossref","unstructured":"290. Kang, C, Punjani, N, Kashanian, JA, Schlegel, PN. Age, sperm retrieval, and testicular histology in Klinefelter syndrome. J Urol 2024;211: 163\u20139.","DOI":"10.1097\/JU.0000000000003737"},{"key":"291","doi-asserted-by":"crossref","unstructured":"291. Ishizuka, B, Furuya, M, Kimura, M, Kamioka, E, Kawamura, K. Live birth rate in patients with premature ovarian insufficiency during long-term follow-up under hormone replacement with or without ovarian stimulation. Front Endocrinol (Lausanne) 2021;12: 795724.","DOI":"10.3389\/fendo.2021.795724"},{"key":"292","doi-asserted-by":"crossref","unstructured":"292. Grin, L, Ishizuka, B, Onimaru, A, Furuya, M, Kawamura, K. Impact of abnormal karyotype on reproductive outcome in premature ovarian insufficiency. Reprod Med Biol 2022;21: e12471.","DOI":"10.1002\/rmb2.12471"},{"key":"293","doi-asserted-by":"crossref","unstructured":"293. Kawamura, K, Cheng, Y, Suzuki, N, Deguchi, M, Sato, Y, Takae, S, et al. Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment. Proc Natl Acad Sci USA 2013;110: 17474\u20139.","DOI":"10.1073\/pnas.1312830110"},{"key":"294","doi-asserted-by":"crossref","unstructured":"294. Kawamura, K, Ishizuka, B, Hsueh, AJW. Drug-free in-vitro activation of follicles for infertility treatment in poor ovarian response patients with decreased ovarian reserve. Reprod Biomed Online 2020;40: 245\u201353.","DOI":"10.1016\/j.rbmo.2019.09.007"},{"key":"295","doi-asserted-by":"crossref","unstructured":"295. Tanaka, Y, Hsueh, AJ, Kawamura, K. Surgical approaches of drug-free in vitro activation and laparoscopic ovarian incision to treat patients with ovarian infertility. Fertil Steril 2020;114: 1355\u20137.","DOI":"10.1016\/j.fertnstert.2020.07.029"},{"key":"296","doi-asserted-by":"crossref","unstructured":"296. Zhai, J, Zhang, J, Zhang, L, Liu, X, Deng, W, Wang, H, et al. Autotransplantation of the ovarian cortex after in-vitro activation for infertility treatment: a shortened procedure. Hum Reprod 2021;36: 2134\u201347.","DOI":"10.1093\/humrep\/deab143"},{"key":"297","doi-asserted-by":"crossref","unstructured":"297. Pantos, K, Simopoulou, M, Pantou, A, Rapani, A, Tsioulou, P, Nitsos, N, et al. A case series on natural conceptions resulting in ongoing pregnancies in menopausal and prematurely menopausal women following platelet-rich plasma treatment. Cell Transplant 2019;28: 1333\u201340.","DOI":"10.1177\/0963689719859539"},{"key":"298","doi-asserted-by":"crossref","unstructured":"298. Hsu, CC, Hsu, L, Hsu, I, Chiu, YJ, Dorjee, S. Live birth in woman with premature ovarian insufficiency receiving ovarian administration of platelet-rich plasma (PRP) in combination with gonadotropin: A case report. Front Endocrinol (Lausanne) 2020;11: 50.","DOI":"10.3389\/fendo.2020.00050"},{"key":"299","doi-asserted-by":"crossref","unstructured":"299. Aflatoonian, A, Lotfi, M, Saeed, L, Tabibnejad, N. Effects of intraovarian injection of autologous platelet-rich plasma on ovarian rejuvenation in poor responders and women with primary ovarian insufficiency. Reprod Sci 2021;28: 2050\u20139.","DOI":"10.1007\/s43032-021-00483-9"},{"key":"300","doi-asserted-by":"crossref","unstructured":"300. Cakiroglu, Y, Saltik, A, Yuceturk, A, Karaosmanoglu, O, Kopuk, SY, Scott, RT, et al. Effects of intraovarian injection of autologous platelet rich plasma on ovarian reserve and IVF outcome parameters in women with primary ovarian insufficiency. Aging (Albany NY) 2020;12: 10211\u201322.","DOI":"10.18632\/aging.103403"},{"key":"301","doi-asserted-by":"crossref","unstructured":"301. T\u00fclek, F, Kahraman, A. The effects of intra-ovarian autologous platelet rich plasma injection on IVF outcomes of poor responder women and women with premature ovarian insufficiency. J Turk Ger Gynecol Assoc 2022;23: 14\u201321.","DOI":"10.4274\/jtgga.galenos.2021.2021.0134"},{"key":"302","doi-asserted-by":"crossref","unstructured":"302. Yan, L, Wu, Y, Li, L, Wu, J, Zhao, F, Gao, Z, et al. Clinical analysis of human umbilical cord mesenchymal stem cell allotransplantation in patients with premature ovarian insufficiency. Cell Prolif 2020;53: e12938.","DOI":"10.1111\/cpr.12938"},{"key":"303","doi-asserted-by":"crossref","unstructured":"303. Tandulwadkar, S, Mishra, S, Jain, H, Mane, N. Ray of hope for decreased ovarian reserve: India\u2019s first two spontaneous conceptions after autologous bone marrow-derived stem cells therapy for ovarian rejuvenation. J Obstet Gynecol India 2022;72(Suppl 2): 458\u201360.","DOI":"10.1007\/s13224-022-01682-3"},{"key":"304","doi-asserted-by":"crossref","unstructured":"304. Oktay, K, Bedoschi, G. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments. J Pediatr Adolesc Gynecol 2014;27: 342\u20136.","DOI":"10.1016\/j.jpag.2014.01.003"},{"key":"305","doi-asserted-by":"crossref","unstructured":"305. Vergier, J, Bottin, P, Saias, J, Reynaud, R, Guillemain, C, Courbiere, B. Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation. Clin Endocrinol (Oxf) 2019;91: 646\u201351.","DOI":"10.1111\/cen.14076"},{"key":"306","doi-asserted-by":"crossref","unstructured":"306. Oktay, K, Rodriguez-Wallberg, KA, Sahin, G. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertil Steril 2010;94: 753.e15\u20139.","DOI":"10.1016\/j.fertnstert.2010.01.044"},{"key":"307","doi-asserted-by":"crossref","unstructured":"307. Ito, A, Katagiri, Y, Tamaki, Y, Fukuda, Y, Oji, A, Morita, M. DuoStim: a new option for fertility preservation for a woman with Turner syndrome. Gynecol Endocrinol 2020;36: 1144\u20138.","DOI":"10.1080\/09513590.2020.1822805"},{"key":"308","doi-asserted-by":"crossref","unstructured":"308. Strypstein, L, Van Moer, E, Nekkebroeck, J, Segers, I, Tournaye, H, Demeestere, I, et al. First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome. J Assist Reprod Genet 2022;39: 543\u20139.","DOI":"10.1007\/s10815-022-02420-4"},{"key":"309","doi-asserted-by":"crossref","unstructured":"309. Talaulikar, VS, Conway, GS, Pimblett, A, Davies, MC. Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome. Fertil Steril 2019;111: 505\u20139.","DOI":"10.1016\/j.fertnstert.2018.11.010"},{"key":"310","doi-asserted-by":"crossref","unstructured":"310. Dunlop, CE, Jack, SA, Telfer, EE, Zahra, S, Anderson, RA. Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex. J Assist Reprod Genet 2023;40: 2385\u201390.","DOI":"10.1007\/s10815-023-02905-w"},{"key":"311","doi-asserted-by":"crossref","unstructured":"311. Andrade, JGR, Fabbri-Scallet, H, Dos Santos, AP, Cools, M, Werner, R, Hiort, O, et al. Clinical findings and follow-up of 46,XY and 45,X\/46,XY testicular dysgenesis. Sex Dev 2019;13: 171\u20137.","DOI":"10.1159\/000504239"},{"key":"312","doi-asserted-by":"crossref","unstructured":"312. Shiraishi, K, Matsuyama, H. Effects of medical comorbidity on male infertility and comorbidity treatment on spermatogenesis. Fertil Steril 2018;110: 1006\u20131011.e2.","DOI":"10.1016\/j.fertnstert.2018.07.002"},{"key":"313","doi-asserted-by":"crossref","unstructured":"313. Mamsen, LS, Charkiewicz, K, Anderson, RA, Telfer, EE, McLaughlin, M, Kelsey, TW, et al. Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation. Fertil Steril 2019;111: 1217\u20131225.e3.","DOI":"10.1016\/j.fertnstert.2019.02.003"},{"key":"314","doi-asserted-by":"crossref","unstructured":"314. Zajicek, M, Volodarsky-Perel, A, Shai, D, Dick-Necula, D, Raanani, H, Gruber, N, et al. Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation. Reprod Biomed Online 2023;47: 102\u20139.","DOI":"10.1016\/j.rbmo.2023.03.004"},{"key":"315","doi-asserted-by":"crossref","unstructured":"315. Cheng, J, Ruan, X, Du, J, Jin, F, Gu, M, Wu, Y, et al. Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review. Front Endocrinol (Lausanne) 2022;13: 959912.","DOI":"10.3389\/fendo.2022.959912"},{"key":"316","doi-asserted-by":"crossref","unstructured":"316. Crouch, NS, Creighton, SM. Transition of care for adolescents with disorders of sex development. Nat Rev Endocrinol 2014;10: 436\u201342.","DOI":"10.1038\/nrendo.2014.62"},{"key":"317","doi-asserted-by":"crossref","unstructured":"317. Amies Oelschlager, AM, Muscarella, M, Gomez-Lobo, V. Transition to adult care in persons with disorders of sexual development: the role of the gynecologist. Obstet Gynecol 2015;126: 845\u20139.","DOI":"10.1097\/AOG.0000000000001034"},{"key":"318","doi-asserted-by":"crossref","unstructured":"318. Hullmann, SE, Chalmers, LJ, Wisniewski, AB. Transition from pediatric to adult care for adolescents and young adults with a disorder of sex development. J Pediatr Adolesc Gynecol 2012;25: 155\u20137.","DOI":"10.1016\/j.jpag.2011.11.003"},{"key":"319","doi-asserted-by":"crossref","unstructured":"319. Chulani, VL, Gomez-Lobo, V, Kielb, SJ, Grimsby, GM. Healthcare transition for patients with differences of sexual development and complex urogenital conditions. Semin Pediatr Surg 2019;28: 150846.","DOI":"10.1016\/j.sempedsurg.2019.150846"},{"key":"320","doi-asserted-by":"crossref","unstructured":"320. Crowley, R, Wolfe, I, Lock, K, McKee, M. Improving the transition between paediatric and adult healthcare: a systematic review. Arch Dis Child 2011;96: 548\u201353.","DOI":"10.1136\/adc.2010.202473"},{"key":"321","doi-asserted-by":"crossref","unstructured":"321. Price, CS, Corbett, S, Lewis-Barned, N, Morgan, J, Oliver, LE, Dovey-Pearce, G. Implementing a transition pathway in diabetes: a qualitative study of the experiences and suggestions of young people with diabetes. Child Care Health Dev 2011;37: 852\u201360.","DOI":"10.1111\/j.1365-2214.2011.01241.x"},{"key":"322","doi-asserted-by":"crossref","unstructured":"322. van der Zwan, YG, Biermann, K, Wolffenbuttel, KP, Cools, M, Looijenga, LHJ. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol 2015;67: 692\u2013701.","DOI":"10.1016\/j.eururo.2014.07.011"},{"key":"323","doi-asserted-by":"crossref","unstructured":"323. Loeser, E, Giffels, P, Schauf, B, Wallwiener, D. Significance of a stable mother-daughter relationship in patients with Mayer-Rokitansky-Kuester-syndrome. Geburtshilfe Frauenheilkd 2002;62: 1193\u20137(in German).","DOI":"10.1055\/s-2002-36371"},{"key":"324","doi-asserted-by":"crossref","unstructured":"324. Heller-Boersma, JG, Schmidt, UH, Edmonds, DK. A randomized controlled trial of a cognitive-behavioural group intervention versus waiting-list control for women with uterovaginal agenesis (Mayer-Rokitansky-K\u00fcster-Hauser syndrome: MRKH). Hum Reprod 2007;22: 2296\u2013301.","DOI":"10.1093\/humrep\/dem167"},{"key":"325","doi-asserted-by":"crossref","unstructured":"325. Ernst, ME, Sandberg, DE, Keegan, C, Quint, EH, Lossie, AC, Yashar, BM. The lived experience of MRKH: Sharing health information with peers. J Pediatr Adolesc Gynecol 2016;29: 154\u20138.","DOI":"10.1016\/j.jpag.2015.09.009"},{"key":"326","unstructured":"326.                ( 2025) Clinical Practice Guidelines for the Management of Differences of Sex Development. The Japanese Society for Pediatric Endocrinology. Kyoto, Japan. https:\/\/jspe.umin.jp\/medical\/files\/guide20250301.pdf accessed on September 22, 2025. (In Japanese)."}],"container-title":["Clinical Pediatric Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/35\/1\/35_2025-0073\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T04:21:52Z","timestamp":1768018912000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/35\/1\/35_2025-0073\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":326,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.1297\/cpe.2025-0073","relation":{},"ISSN":["0918-5739","1347-7358"],"issn-type":[{"value":"0918-5739","type":"print"},{"value":"1347-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"article-number":"2025-0073"}}