{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T09:31:34Z","timestamp":1771752694161,"version":"3.50.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2012,5,30]],"date-time":"2012-05-30T00:00:00Z","timestamp":1338336000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1007\/s00431-012-1754-0","type":"journal-article","created":{"date-parts":[[2012,7,17]],"date-time":"2012-07-17T15:02:59Z","timestamp":1342537379000},"page":"1497-1502","source":"Crossref","is-referenced-by-count":24,"title":["The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does \u201cdisorders of sexual development (DSD)\u201d classification based on new Chicago consensus cover all sex chromosome DSD?"],"prefix":"10.1007","volume":"171","author":[{"given":"G\u00f6n\u00fcl","family":"\u00d6cal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merih","family":"Berbero\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"\u015e\u0131klar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice Ilg\u0131n","family":"Ruhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajlan","family":"T\u00fck\u00fcn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine","family":"\u00c7amtosun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015eenay Sava\u015f","family":"Erdeve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00fclent","family":"Hac\u0131hamdio\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suat","family":"Fit\u00f6z","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,5,30]]},"reference":[{"key":"1754_CR1","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.juro.2010.11.009","volume":"185","author":"IA Aaronson","year":"2011","unstructured":"Aaronson IA (2011) Terminology for disorders of sex development: clarity or confusion. J Urol 185:388\u2013389","journal-title":"J Urol"},{"key":"1754_CR2","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1046\/j.1464-410x.2000.00354.x","volume":"85","author":"SF Ahmed","year":"2000","unstructured":"Ahmed SF, Khwaja O, Hughes IA (2000) The role of a clinical score in the assesment of ambiguous genitalia. BJU Int 85:120\u2013124","journal-title":"BJU Int"},{"issue":"suppl","key":"1754_CR3","first-page":"156","volume":"70","author":"A Alika\u015fifo\u011flu","year":"2008","unstructured":"Alika\u015fifo\u011flu A, Demirbilek H, Ozon A, Gonc N, Kandemir N (2008) A clinical review of patients with 45, X\/46, XY genotype. Horm Res 70(suppl):156","journal-title":"Horm Res"},{"key":"1754_CR4","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.fertnstert.2007.02.058","volume":"89","author":"F Alvarez-Nava","year":"2008","unstructured":"Alvarez-Nava F, Puerta H, Soto M, Pineda L, Temponi A (2008) High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45, X\/46, XY gonadal dysgenesis. Fertil Steril 89:458\u2013460","journal-title":"Fertil Steril"},{"key":"1754_CR5","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1590\/S0004-27302010000300013","volume":"54","author":"JG Andrade","year":"2010","unstructured":"Andrade JG, Guerra-J\u00fanior G, Maciel-Guerra AT (2010) 46, XY and 45, X\/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol 54:331\u2013334","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"1754_CR6","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.juro.2010.09.083","volume":"85","author":"JS Barthold","year":"2011","unstructured":"Barthold JS (2011) Disorders of sex differentiation: a pediatric urologist's perspective of new terminology and recommendations. J Urol 85:393\u2013400","journal-title":"J Urol"},{"key":"1754_CR7","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1515\/JPEM.1999.12.5.687","volume":"12","author":"R Birnbacher","year":"1999","unstructured":"Birnbacher R, Marberger M, Weissenbacher G, Schober E, Frisch H (1999) Gender identity in an adolescent with mixed gonadal dysgenesis. J Pediatr Endocrinol Metab 12:687\u2013690","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1754_CR8","first-page":"214","volume-title":"Handbook of Clinical Pediatric Endocrinology","author":"CGD Brook","year":"2008","unstructured":"Brook CGD, Brown RS (2008) Tests and normal values in pediatric endocrinology. In: Brook CGD (ed) Handbook of Clinical Pediatric Endocrinology, Firstth edn. Blackwell Publ, London, pp 214\u2013237","edition":"First"},{"key":"1754_CR9","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ejogrb.2003.10.035","volume":"15","author":"P Canto","year":"2004","unstructured":"Canto P, Galicia N, Soderlung D, Escudero I, Mendez JP (2004) Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol 15:55\u201358","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"1754_CR10","first-page":"156","volume":"46","author":"HJ Chang","year":"1990","unstructured":"Chang HJ, Clark RD, Bachman H (1990) The phenotype of 45, X\/46, XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46:156\u2013167","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1754_CR11","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1034\/j.1600-0463.2003.1110104.x","volume":"111","author":"H Chemes","year":"2003","unstructured":"Chemes H, Muzulin PM, Venara MC, Mulhmann Mdel C, Mart\u00ednez M, Gamboni M (2003) Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS 111(1):12\u201323","journal-title":"APMIS"},{"key":"1754_CR12","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.beem.2009.11.005","volume":"24","author":"PT Cohen-Kettenis","year":"2010","unstructured":"Cohen-Kettenis PT (2010) Psychosocial and psychosexual aspects of disorders of sex development. Best Pract Res Clin Endocrinol Metab 24:325\u2013334","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"1754_CR13","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1515\/JPEM.2005.18.8.729","volume":"18","author":"AD Dreger","year":"2005","unstructured":"Dreger AD, Chase C, Sausa A, Gruppusa A, Frader J (2005) Changing nomenclature\/taxonomy for intersex, scientific and clinical rationale. J Pediatr Endocrinol Metab 18:729\u2013733","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1754_CR14","doi-asserted-by":"crossref","first-page":"77","DOI":"10.4274\/jcrpe.v3i2.16","volume":"3","author":"S Erdo\u011fan","year":"2011","unstructured":"Erdo\u011fan S, Kara C, U\u00e7akt\u00fcrk A, Ayd\u0131n M (2011) Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol 3:77\u201383","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"1754_CR15","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1590\/S0004-27302010000300013","volume":"54","author":"G Ribeiro","year":"2010","unstructured":"Ribeiro G, de Andrade J, Guerra-Junior G, Macial-Guerra T (2010) 46, XY and 45, X\/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arg Braqs Endocrinol Metab 54:331\u2013334","journal-title":"Arg Braqs Endocrinol Metab"},{"key":"1754_CR16","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/S0015-0282(16)44950-2","volume":"34","author":"PA Gantt","year":"1980","unstructured":"Gantt PA, Bryrd JR, Greenblatt RB, McDonough PG (1980) A clinical and cytogenetic study of fifteen patients with 45, X\/46XY gonadal dysgenesis. Fertil Steril 34:216\u2013221","journal-title":"Fertil Steril"},{"issue":"suppl.1","key":"1754_CR17","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1159\/000097559","volume":"67","author":"IA Hughes","year":"2007","unstructured":"Hughes IA (2007) Disorders of sexual differentiation. Horm Res 67(suppl1):91\u201395","journal-title":"Horm Res"},{"key":"1754_CR18","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1159\/000152032","volume":"2","author":"CP Houk","year":"2008","unstructured":"Houk CP, Lee PA (2008) Concensus statement on terminology and management: disorders of sex development. Sex Dev 2:172\u2013180","journal-title":"Sex Dev"},{"key":"1754_CR19","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1515\/JPEM.2009.22.11.1083","volume":"22","author":"A Karatza","year":"2009","unstructured":"Karatza A, Chrysis D, Stefanou EG, Mantagos S, Salakos CJ (2009) Mixed gonadal dysgenesis in a 45, X neonate with chromosome Y material in the dysgenetic gonad. Pediatr Endocrinol Metab 22:1083\u20131086","journal-title":"Pediatr Endocrinol Metab"},{"key":"1754_CR20","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1097\/01.MP.0000027623.23885.0D","volume":"15","author":"KR Kim","year":"2002","unstructured":"Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (2002) True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Patol 15:1013\u20131019","journal-title":"Mod Patol"},{"key":"1754_CR21","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1007\/BF00716471","volume":"146","author":"J Knudtzon","year":"1987","unstructured":"Knudtzon J, Aarskog D (1987) 45, X\/46,XY mosaicism. A clinical review of ten cases. Eur J Pediatr 146:266\u2013271","journal-title":"Eur J Pediatr"},{"key":"1754_CR22","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.fertnstert.2007.12.078","volume":"91","author":"LC Layman","year":"2009","unstructured":"Layman LC, Tho SPT, Clark AD, Kulharya A, McDonough PG (2009) Phenotypic spectrum of 45, X\/46XY males with ring Y chromosome and bilaterally descended testes. Fertil Steril 91:791\u2013797","journal-title":"Fertil Steril"},{"key":"1754_CR23","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1542\/peds.2006-0738","volume":"118","author":"PA Lee","year":"2006","unstructured":"Lee PA, Houk CP, Ahmet F, Hughes IA, in collaboration with participants in the international concencus conferance on intersex organized by the Lawson Wilkinns Pediatric Endocrine Society and the European Society for Pediatric Endocrinology (2006) Concensus statement on management of intersex disorders. Pediatrics 118:488\u2013500","journal-title":"Pediatrics"},{"key":"1754_CR24","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1515\/JPEM.2006.19.7.873","volume":"19","author":"BM McCarty","year":"2006","unstructured":"McCarty BM, Migeon CJ, Meyer-Bahlburg HFL, Zacur H, Wisniewsski AM (2006) Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metab 19:873\u2013877","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1754_CR25","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1055\/s-0028-1085999","volume":"117","author":"G Ocal","year":"2009","unstructured":"Ocal G, Berbero\u011flu M, Siklar Z, Bilir P (2009) Gender dysphoria and gender change in an adolescent with 45, X\/46, XY mixed gonadal dysgenesis. Exp Clin Endocrinol Diabetes 117:301\u2013304","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"1754_CR26","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1515\/jpem.2010.177","volume":"23","author":"G Ocal","year":"2010","unstructured":"Ocal G, Berbero\u011flu M, S\u0131klar Z, Bilir P, Uslu R, Ya\u011fmurlu A, T\u00fck\u00fcn A, Akar N, Soyg\u00fcr T, G\u00fcltan S, Gedik V (2010) Disorders of sexual development: an overview of 18\u00a0years experience in the Pediatric Endocrinology Department of Ankara \u00dcniversity. J Pediatr Endocrinol Metab 23:1123\u20131132","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1754_CR27","doi-asserted-by":"crossref","first-page":"732","DOI":"10.4158\/EP09060.CRR","volume":"15","author":"J Pascual","year":"2009","unstructured":"Pascual J, McMamm LP, Gallagher T, Pinksker JE (2009) Ambiguous genitalia in a newborn with 45, X\/46, X, idic (Y) ovotesticular disorder of sex development. AACE Endocr Pract 15:732\u2013736","journal-title":"AACE Endocr Pract"},{"key":"1754_CR28","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/s00439-002-0772-9","volume":"111","author":"G Queipo","year":"2002","unstructured":"Queipo G, Zentero JC, Pena R, Nieto K, Radillo A, Dorantes LM, Erana L, Lieberman E, Soderlund D, Jimenez AL, Ramon G, Kofman-Alfonso S (2002) Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicisim for Y-derived sequences in 46, XX cases. Hum Genet 111:278\u2013283","journal-title":"Hum Genet"},{"key":"1754_CR29","first-page":"271","volume":"16","author":"CA Quigley","year":"1995","unstructured":"Quigley CA, De Bellis A, Marschake KB, El-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271\u2013316","journal-title":"Endocr Rev"},{"key":"1754_CR30","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/BF02751566","volume":"59","author":"M Rohatgi","year":"1992","unstructured":"Rohatgi M, Gupta DK, Menon PS, Verma IC, Mathur M (1992) Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism\u2014a critical analysis. Indian J Pediatr 59:487\u2013500","journal-title":"Indian J Pediatr"},{"key":"1754_CR31","first-page":"210","volume":"4","author":"Z S\u0131klar","year":"2007","unstructured":"S\u0131klar Z, Berbero\u011flu M, Ad\u0131yaman P, Salih M, T\u00fck\u00fcn A, \u00c7etinkaya E, Aycan Z, Evliyao\u011flu O, Erg\u00fcr AT, \u00d6cal G (2007) Disorders of gonadal development: a broad clinical, cytogenetic, histopatologenic spectrum. Pediatr Endocrinol Rev 4:210\u2013217","journal-title":"Pediatr Endocrinol Rev"},{"key":"1754_CR32","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1297\/cpe.15.109","volume":"15","author":"I Takahashi","year":"2006","unstructured":"Takahashi I, Miyamoto J, Hasegawa Y (2006) Limitations of G-banding karyotype analysis with peripheral lymphocytes in diagnosing mixed gonadal dysgenesis. Clin Pediatr Endocrinol 15:109\u2013115","journal-title":"Clin Pediatr Endocrinol"},{"key":"1754_CR33","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1542\/peds.104.2.304","volume":"104","author":"L Telvi","year":"1999","unstructured":"Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL (1999) 45, X\/46, XY mosaicism: report of 27 cases. Pediatrics 104:304\u2013308","journal-title":"Pediatrics"},{"key":"1754_CR34","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000281468","volume":"74","author":"H Tosson","year":"2010","unstructured":"Tosson H, Rose SR, Gartner LA (2010) Children with 45, X\/46XY karyotype from birth to adult height. Horm Res 74:190\u2013200","journal-title":"Horm Res"},{"key":"1754_CR35","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1515\/JPEM.2007.20.9.1001","volume":"20","author":"R Uslu","year":"2007","unstructured":"Uslu R, Oztop D, Ozcan O, Yilmaz S, Berbero\u011flu M, Adiyaman P, Cakmak M, Kerimo\u011flu E, Ocal G (2007) Factors contributing to sex assignment and reassignment decisions in Turkish children with 46, XY disorders of sex development. J Pediatr Endocrinol Metab 20:1001\u20131015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1754_CR36","first-page":"3","volume":"45","author":"G Verkauskas","year":"2009","unstructured":"Verkauskas G, Macianskyte D, Janciauskas D, Preiksa RT, Verkauskiene R, Jaubert F (2009) Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation. Medicina (Kaunas) 45:3","journal-title":"Medicina (Kaunas)"},{"key":"1754_CR37","unstructured":"Vilain E, Sadberg DE (2009) Disorders of sex development: Nomenclature. Growth Genet Horm 25(1):9\u201310"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-012-1754-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-012-1754-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-012-1754-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T02:43:44Z","timestamp":1561949024000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-012-1754-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,30]]},"references-count":37,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["1754"],"URL":"https:\/\/doi.org\/10.1007\/s00431-012-1754-0","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,30]]}}}