{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:30:38Z","timestamp":1790631038925,"version":"4.1.0"},"reference-count":170,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T00:00:00Z","timestamp":1604448000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.<\/jats:p>","DOI":"10.3390\/jcm9113555","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:37Z","timestamp":1604534437000},"page":"3555","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":78,"title":["Disorders of Sex Development: Classification, Review, and Impact on Fertility"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5773-1862","authenticated-orcid":false,"given":"Pedro","family":"Aci\u00e9n","sequence":"first","affiliation":[{"name":"Department of Gynecology, Miguel Hern\u00e1ndez University, San Juan Campus, 03550 San Juan, Alicante, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6536-453X","authenticated-orcid":false,"given":"Maribel","family":"Aci\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Gynecology, Miguel Hern\u00e1ndez University, San Juan Campus, 03550 San Juan, Alicante, Spain"},{"name":"Obstetrics and Gynecology, San Juan University Hospital, San Juan Campus, 03550 San Juan, Alicante, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus Statement on Management of Intersex Disorders: In collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology","volume":"118","author":"Lee","year":"2006","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1542\/peds.2006-0737","article-title":"Summary of Consensus Statement on Intersex Disorders and Their Management: Writing Committee for the International Intersex Consensus Conference Participants","volume":"118","author":"Houk","year":"2006","journal-title":"Pediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","article-title":"Consensus statement on management of intersex disorders","volume":"91","author":"Hughes","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1515\/JPEM.2005.18.8.729","article-title":"Changing the nomenclature\/taxonomy for Intersex: A Scientific and Clinical Rationale","volume":"18","author":"Dreger","year":"2005","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"628e30","DOI":"10.1136\/bmj.331.7517.628","article-title":"Revealing the diagnosis of androgen insensitivity syndrome in adulthood","volume":"331","author":"Conn","year":"2005","journal-title":"BMJ"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/s41574-018-0010-8","article-title":"Caring for Individuals with a Difference of Sex Development (DSD): A Consensus Statement","volume":"14","author":"Cools","year":"2018","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Camats, N., Fl\u00fcck, C.E., and Aud\u00ed, L. (2020). Oligogenic Origin of Differences of Sex Development in Humans. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21051809"},{"key":"ref_8","unstructured":"Aci\u00e9n, P. (2020). Disorders of Sex Development. Open Acc. J. Repro. Sex. Disord., 2."},{"key":"ref_9","unstructured":"Aci\u00e9n, P. (2020). Classification of the human sex development anomalies. Curr. Pathophysiol. Bases, submitted, under review."},{"key":"ref_10","first-page":"365","article-title":"Why boys will be boys and girls will be girls: Human sex development and its defects","volume":"108","author":"Eid","year":"2016","journal-title":"Embryo Today"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/978-3-319-31973-5_13","article-title":"The Battle of the Sexes: Human Sex Development and Its Disorders","volume":"58","year":"2016","journal-title":"Results Probl. Cell Differ."},{"key":"ref_12","first-page":"99","article-title":"Gonadal steroid influences on brain development and sexual differentiation","volume":"27","author":"McEwen","year":"1983","journal-title":"Int. Rev. Physiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"6745","DOI":"10.1523\/JNEUROSCI.1012-12.2012","article-title":"Sex steroids and the organization of the human brain","volume":"32","author":"Peper","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1523\/JNEUROSCI.4389-11.2012","article-title":"Fetal testosterone influences sexually dimorphic gray matter in the human brain. Version 2","volume":"32","author":"Lombardo","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_15","first-page":"120","article-title":"Sexual differentiation of the brain: Role of testosterone and its active metabolites","volume":"27","author":"Colciago","year":"2004","journal-title":"J. Endocrinol. Invest."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"eaaz1170","DOI":"10.1126\/sciadv.aaz1170","article-title":"10,000 social brains: Sex differentiation in human brain anatomy","volume":"6","author":"Kiesow","year":"2020","journal-title":"Sci. Adv."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Ristori, J., Cocchetti, C., Romani, A., Mazzoli, F., Vignozzi, L., Maggi, M., and Fisher, A.D. (2020). Brain Sex Differences Related to Gender Identity Development: Genes or Hormones?. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21062123"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"bqz022","DOI":"10.1210\/endocr\/bqz022","article-title":"Neonatal Inhibition of DNA Methylation Disrupts Testosterone-Dependent Masculinization of Neurochemical Phenotype","volume":"161","author":"Cisternas","year":"2020","journal-title":"Endocrinology"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1177\/1073858419867298","article-title":"The Complex Relationships between Sex and the Brain","volume":"26","author":"Joel","year":"2020","journal-title":"Neuroscientist"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"104691","DOI":"10.1016\/j.yhbeh.2020.104691","article-title":"Sexual differentiation of brain and other tissues: Five questions for the next 50 years","volume":"120","author":"Arnold","year":"2020","journal-title":"Horm. Behav."},{"key":"ref_21","first-page":"8","article-title":"Human Sex Development: From Basic Science to Clinical Practice and Back","volume":"15","year":"2017","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Acien, P. (2004). Tratado de Obstetricia y Ginecolog\u00eda: Ginecolog\u00eda, Ed Molloy.","DOI":"10.1016\/S0304-5013(04)76058-6"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/163676a0","article-title":"A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis","volume":"163","author":"Barr","year":"1949","journal-title":"Nature"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1136\/bmj.2.5217.1907","article-title":"Intersex States","volume":"2","author":"Foss","year":"1960","journal-title":"Br. Med. J."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/257235a0","article-title":"Possible role for H-Y antigen in the primary determination of sex","volume":"257","author":"Wachtel","year":"1975","journal-title":"Nature"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1038\/modpathol.2016.123","article-title":"A novel morphological approach to gonads in disorders of sex development","volume":"29","author":"Lepais","year":"2016","journal-title":"Mod. Pathol."},{"key":"ref_27","unstructured":"Acien, P. (1998). Tratado de Obstetricia y Ginecolog\u00eda: Obstetricia, Ed Molloy."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/humupd\/dmr021","article-title":"The history of female genital tract malformation classifications and proposal of an updated system","volume":"17","year":"2011","journal-title":"Hum. Reprod. Update"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2174\/1573404811309010001","article-title":"Classification of the Female Genital Tract Malformations and its Embryological Origin. Diagnostic and Therapeutical Considerations","volume":"9","year":"2013","journal-title":"Curr. Womens Health Rev."},{"key":"ref_30","first-page":"507","article-title":"Embryological considerations and update classification of female genital malformations","volume":"XXXV\/4","year":"2013","journal-title":"G. Ital. Ostet. Ginecol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1093\/humrep\/deh423","article-title":"Complex malformations of the female genital tract. New types and revision of classification","volume":"19","year":"2004","journal-title":"Hum. Reprod."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1093\/humupd\/dmv048","article-title":"The presentation and management of complex female genital malformations","volume":"22","year":"2016","journal-title":"Hum. Reprod. Update"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1210\/jcem-4-8-357","article-title":"Ovarian Agenesis: Pathology, Associated Clinical Symptoms and the Bearing on the Theories of Sex Differentiation","volume":"4","author":"Wilkins","year":"1944","journal-title":"J. Clin. Endocrinol."},{"key":"ref_34","first-page":"215","article-title":"Echter Agonadismus (Anorchismus) bei Geschwistern","volume":"142","author":"Linden","year":"1956","journal-title":"Gynaecologia"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1093\/humupd\/7.6.603","article-title":"Turner\u2019s syndrome and fertility: Current status and possible putative prospects","volume":"7","author":"Abir","year":"2001","journal-title":"Hum. Reprod. Update"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.ecl.2015.07.004","article-title":"Reproductive Issues in Women with Turner Syndrome","volume":"44","author":"Folsom","year":"2015","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/humrep\/dew012","article-title":"Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome","volume":"31","author":"Bernard","year":"2016","journal-title":"Hum. Reprod."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"101289","DOI":"10.1016\/j.beem.2019.101289","article-title":"Female fertility preservation in DSD","volume":"33","author":"Kalra","year":"2019","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.fertnstert.2019.02.003","article-title":"Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation","volume":"111","author":"Mamsen","year":"2019","journal-title":"Fertil. Steril."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Gomes, N.L., Chetty, T., Jorgensen, A., and Mitchell, R. (2020). Disorders of Sex Development\u2014Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21072282"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0002-9378(16)34583-5","article-title":"The spectrum of gonadal dysgenesis. A clinical, cytogenetic, and pathologic study","volume":"98","author":"Greenblatt","year":"1967","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/hmg\/ddy037","article-title":"Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies","volume":"27","author":"Portnoi","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1002\/ajmg.a.38276","article-title":"Incidence, puberty, and fertility in 45,X\/47,XXX mosaicism: Report of a patient and a literature review","volume":"173","author":"Lim","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1002\/ajmg.a.38624","article-title":"Letter: Incidence, puberty, and fertility in 45,X\/47,XXX mosaicism: Report of a patient and a literature review","volume":"176","author":"Martin","year":"2018","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_46","first-page":"81S","article-title":"Gonadal and M\u00fcllerian duct agenesis in a girl with 46, X, i(Xq)","volume":"63","author":"Hersh","year":"1984","journal-title":"Obstet. Gynecol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1159\/000338413","article-title":"Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations","volume":"136","author":"Kim","year":"2012","journal-title":"Cytogenet. Genome Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ajmg.1304","article-title":"Cytogenetic and Molecular Characterization of Two Isodicentric Y Chromosomes","volume":"101","author":"Stankiewicz","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.4238\/vol7-4gmr483","article-title":"FISH, PCR and Cytogenetic Characterization in a Girl with Ambiguous Genitalia and Karyotype mos46,X,iso(Y)(qter\u2192p11.3::p11.3\u2192qter)[80]\/45,X[17]\/46,X,+mar[3]","volume":"7","author":"Pereira","year":"2008","journal-title":"Genet. Mol. Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1055\/s-2008-1043943","article-title":"A Turner-like Phenotype in a Girl with an Isodicentric Fluorescent Y Chromosome Mosaicism","volume":"209","author":"Bergendi","year":"1997","journal-title":"Klin. Pediatr."},{"key":"ref_51","first-page":"363","article-title":"Dicentric Y Chromosome","volume":"63","author":"Amouri","year":"2005","journal-title":"Ann. Biol. Clin. (Paris)"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s10815-019-01676-7","article-title":"Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development","volume":"37","author":"Pan","year":"2020","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"bcr0720080485","DOI":"10.1136\/bcr.07.2008.0485","article-title":"46 XX pure gonadal dysgenesis: An infrequent cause of primary amenorrhoea","volume":"2009","author":"Pertusa","year":"2009","journal-title":"BMJ Case Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.1479-828X.1979.tb01384.x","article-title":"A Patient with Pure Gonadal Dysgenesis, Gonadal Tumour and Virilisation","volume":"19","author":"Schokman","year":"1979","journal-title":"Aust. N. Z. J. Obs. Gynaecol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/0090-8258(83)90169-5","article-title":"Case report of dysgerminoma in a patient with 46,XX pure gonadal dysgenesis","volume":"16","author":"Maeyama","year":"1983","journal-title":"Gynecol. Oncol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1136\/bmj.2.4941.709","article-title":"Male Pseudohermaphroditism: A Hitherto Undescribed Form","volume":"2","author":"Swyer","year":"1955","journal-title":"Br. Med. J."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"267","DOI":"10.4103\/jhrs.JHRS_14_19","article-title":"A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both","volume":"12","author":"Gupta","year":"2019","journal-title":"J. Hum. Reprod. Sci."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-5-8","article-title":"A review of trisomy X (47,XXX)","volume":"5","author":"Tartaglia","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.0954-6820.1964.tb04630.x","article-title":"XX Sex Chromosomes in a Human Male. First case","volume":"175","author":"DelaChapelle","year":"1964","journal-title":"Acta Med. Scand."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/315224a0","article-title":"Chromosome Y-specific DNA in Related Human XX Males","volume":"315","author":"Page","year":"1985","journal-title":"Nature"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.1210\/jc.2007-0447","article-title":"Clinical, Endocrinological, and Epigenetic Features of the 46,XX Male Syndrome, Compared with 47,XXY Klinefelter Patients","volume":"92","author":"Vorona","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.jpurol.2016.09.015","article-title":"Fertility in disorders of sex development: A review","volume":"12","author":"Kolon","year":"2016","journal-title":"J. Pediatr. Urol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1210\/jcem-2-11-615","article-title":"Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle-stimulating hormone","volume":"2","author":"Klinefelter","year":"1942","journal-title":"J. Clin. Endocrinol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/S0140-6736(59)91694-0","article-title":"Chromosomal sex in the syndrome of testicular feminization","volume":"2","author":"Jacobs","year":"1959","journal-title":"Lancet"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0889-8529(18)30285-8","article-title":"The Klinefelter Syndrome of Testicular Dysgenesis","volume":"20","author":"Schwartz","year":"1991","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"825","DOI":"10.3389\/fendo.2019.00825","article-title":"The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature","volume":"10","author":"Hanna","year":"2019","journal-title":"Front. Endocrinol."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Zitzmann, M., Aksglaede, L., Corona, G., Isidori, A.M., Juul, A., T\u2019Sjoen, G., Kliesch, S., D\u2019Hauwers, K., Toppari, J., and S\u0142owikowska-Hilczer, J. (2020). European academy of andrology guidelines on Klinefelter Syndrome: Endorsing Organization: European Society of Endocrinology. Andrology, 1\u201323.","DOI":"10.1111\/andr.12909"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1093\/humupd\/dmx008","article-title":"Sperm recovery and ICSI outcomes in Klinefelter syndrome: A systematic review and meta-analysis","volume":"23","author":"Corona","year":"2017","journal-title":"Hum. Reprod. Update"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/humrep\/dey094","article-title":"When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome?","volume":"33","author":"Vloeberghs","year":"2018","journal-title":"Hum. Reprod."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1093\/humupd\/dmz038","article-title":"Age-related presence of spermatogonia in patients with Klinefelter syndrome: A systematic review and meta-analysis","volume":"26","author":"Deebel","year":"2020","journal-title":"Hum. Reprod. Update"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/humu.23916","article-title":"Mutation update for the NR5A1 gene involved in DSD and infertility","volume":"41","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_72","first-page":"4963574","article-title":"408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing","volume":"2016","author":"Barros","year":"2016","journal-title":"Int. J. Endocrinol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000504239","article-title":"Clinical Findings and Follow-Up of 46,XY and 45,X\/46,XY Testicular Dysgenesis","volume":"13","author":"Andrade","year":"2019","journal-title":"Sex. Dev."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1590\/S0004-27302010000300013","article-title":"46,XY and 45,X\/46,XY testicular dysgenesis: Similar gonadal and genital phenotype, different prognosis","volume":"54","author":"Andrade","year":"2010","journal-title":"Arq. Bras. Endocrinol. Metabol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"150841","DOI":"10.1016\/j.sempedsurg.2019.150841","article-title":"Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents","volume":"28","author":"Weidler","year":"2019","journal-title":"Semin. Pediatr. Surg."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"231","DOI":"10.6065\/apem.2019.24.4.231","article-title":"Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis","volume":"24","author":"Kim","year":"2019","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_77","first-page":"480724","article-title":"Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males","volume":"2014","author":"Fabbri","year":"2014","journal-title":"Int. J. Endocrinol."},{"key":"ref_78","first-page":"752","article-title":"Multiparity in a covert true hermaphrodite","volume":"60","author":"Tiltman","year":"1982","journal-title":"Obstet. Gynecol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1097\/AOG.0b013e3181866456","article-title":"Pregnancy in true hermaphrodites and all male offspring to date","volume":"113","author":"Schultz","year":"2009","journal-title":"Obstet. Gynecol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s13577-012-0054-3","article-title":"Successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46,XX\/46,XY karyotype: Case report","volume":"25","author":"Sugawara","year":"2012","journal-title":"Hum. Cell."},{"key":"ref_81","first-page":"e6333","article-title":"Uterus Transplantation as a Therapy Method in Mayer-Rokitansky-K\u00fcster-Hauser Syndrome","volume":"11","author":"Georgopapadakos","year":"2019","journal-title":"Cureus"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1159\/000448013","article-title":"NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations","volume":"10","author":"Fabbri","year":"2016","journal-title":"Sex. Dev."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1530\/acta.0.0830173","article-title":"A Case of Male Pseudohermaphroditism Associated with Elevated LH, Normal FSH and Low Testosterone Possibly Due to the Secretion of an Abnormal LH Molecule","volume":"83","author":"Park","year":"1976","journal-title":"Eur. J. Endocrinol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1159\/000342496","article-title":"Gonadotropin Resistance","volume":"24","author":"Latronico","year":"2013","journal-title":"Endocr. Dev."},{"key":"ref_85","first-page":"208","article-title":"Embryonic testicular regression. A clinical spectrum of XY agonadal individuals","volume":"49","author":"Edman","year":"1977","journal-title":"Obstet. Gynecol."},{"key":"ref_86","first-page":"44","article-title":"Testicular regression syndrome","volume":"53","author":"Coulam","year":"1979","journal-title":"Obstet. Gynecol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1056\/NEJM197610282951801","article-title":"Leydig-cell agenesis: A cause of male pseudohermaphroditism","volume":"295","author":"Forest","year":"1976","journal-title":"N. Engl. J. Med."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1210\/jcem-53-1-123","article-title":"Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation","volume":"53","author":"Schwartz","year":"1981","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1210\/jcem-59-1-156","article-title":"A syndrome of gonadotropin resistance possibly due to a luteinizing hormone receptor defect","volume":"59","author":"David","year":"1984","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.1320260212","article-title":"A clinico-genetic investigation of Leydig cell hypoplasia","volume":"26","author":"Saldanha","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.beem.2006.09.003","article-title":"Gonadotrophin Resistance","volume":"20","author":"Huhtaniemi","year":"2006","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJM199602223340805","article-title":"Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone\u2013Receptor Gene","volume":"334","author":"Latronico","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1046\/j.1365-2265.1999.00863.x","article-title":"Clinical Features of Women with Resistance to Luteinizing Hormone","volume":"51","author":"Arnhold","year":"1999","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1097\/FPC.0b013e3282f4e98c","article-title":"Polymorphisms of the Luteinizing Hormone\/Chorionic Gonadotropin Receptor Gene: Association with Maldescended Testes and Male Infertility","volume":"18","author":"Simoni","year":"2008","journal-title":"Pharmacogenet. Genomics"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1007\/s10815-014-0241-0","article-title":"Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia","volume":"31","author":"Bakircioglu","year":"2014","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"779","DOI":"10.4158\/EP-2019-0032","article-title":"Testicular Regression Syndrome: Practice Variation in Diagnosis and Management","volume":"25","author":"Heksch","year":"2019","journal-title":"Endocr. Pract."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1093\/humrep\/dey289","article-title":"DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads","volume":"33","author":"Macdonald","year":"2018","journal-title":"Hum. Reprod."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"e20190017","DOI":"10.1590\/1678-4685-gmb-2019-0017","article-title":"PACT\/PRKRA and p53 regulate transcriptional activity of DMRT1","volume":"43","author":"Fujitani","year":"2020","journal-title":"Genet. Mol. Biol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/s41436-019-0606-y","article-title":"Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome","volume":"22","author":"McElreavey","year":"2020","journal-title":"Genet. Med."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00383-017-4206-0","article-title":"Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review","volume":"34","author":"Nataraja","year":"2018","journal-title":"Pediatr. Surg. Int."},{"key":"ref_101","first-page":"3070","article-title":"Long term outcome in adult males with classic congenital adrenal hyperplasia","volume":"86","author":"Cabrera","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"624823","DOI":"10.1186\/1687-9856-2009-624823","article-title":"Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia","volume":"2009","author":"Hermus","year":"2009","journal-title":"Int. J. Pediatr. Endocrinol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1210\/jc.2008-1414","article-title":"High prevalence of reduced fecundity in men with congenital adrenal hyperplasia","volume":"94","author":"Reisch","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.fertnstert.2013.11.002","article-title":"Fertility in patients with congenital adrenal hyperplasia","volume":"101","author":"Reichman","year":"2014","journal-title":"Fertil. Steril."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1210\/jc.2006-1311","article-title":"Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: Evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients","volume":"92","author":"Otten","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s13052-017-0371-y","article-title":"Lipoid Congenital Adrenal Hyperplasia by Steroidogenic Acute Regulatory Protein (STAR) Gene Mutation in an Italian Infant: An Uncommon Cause of Adrenal Insufficiency","volume":"43","author":"Bizzarri","year":"2017","journal-title":"Ital. J. Pediatr."},{"key":"ref_107","first-page":"150119","article-title":"Lipoid Congenital Adrenal Hyperplasia Due to STAR Mutations in a Caucasian Patient","volume":"2016","author":"Kaur","year":"2016","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000321215","article-title":"P450 Side-Chain Cleavage Deficiency\u2014A Rare Cause of Congenital Adrenal Hyperplasia","volume":"20","author":"Hauffa","year":"2011","journal-title":"Endocr. Dev."},{"key":"ref_109","first-page":"16","article-title":"Novel SCC Mutation in a Patient of Mexican Descent with Sex Reversal, Salt-Losing Crisis and Adrenal Failure","volume":"2016","author":"Kaur","year":"2016","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Zhao, X., Su, Z., Liu, X., Song, J., Gan, Y., Wen, P., Li, S., Wang, L., and Pan, L. (2018). Long-term Follow-Up in a Chinese Child with Congenital Lipoid Adrenal Hyperplasia Due to a StAR Gene Mutation. BMC Endocr. Disord., 18.","DOI":"10.1186\/s12902-018-0307-6"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"K15","DOI":"10.1530\/EJE-19-0696","article-title":"Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis","volume":"182","author":"Kallali","year":"2020","journal-title":"Eur. J. Endocrinol."},{"key":"ref_112","first-page":"16","article-title":"De novo Disruption of Promoter and Exon 1 of STAR Gene Reveals Essential Role for Gonadal Development","volume":"2017","author":"Piya","year":"2017","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1210\/er.2002-0050","article-title":"Molecular Biology of the 3beta-hydroxysteroid dehydrogenase\/delta5-delta4 Isomerase Gene Family","volume":"26","author":"Simard","year":"2005","journal-title":"Endocr. Rev."},{"key":"ref_114","first-page":"bcr2015213939","article-title":"High 17-hydroxyprogesterone Level in Newborn Screening Test for Congenital Adrenal Hyperplasia","volume":"2016","year":"2016","journal-title":"BMJ Case Rep."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.medcli.2015.04.004","article-title":"Partial 3\u00df-hydroxysteroid Dehydrogenase Type 2 Deficiency: Diagnosis of a Novel Mutation After Positive Newborn Screening for 21-hydroxylase Deficiency","volume":"146","year":"2016","journal-title":"Med. Clin. (Barc.)"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1080\/09513590.2019.1650342","article-title":"A Report of Congenital Adrenal Hyperplasia Due to 17\u03b1-hydroxylase Deficiency in Two 46,XX Sisters","volume":"36","author":"Burgos","year":"2020","journal-title":"Gynecol. Endocrinol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0889-8529(18)30101-4","article-title":"Disorders of steroid 17 alpha-hydroxylase deficiency","volume":"23","author":"Kater","year":"1994","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"3058","DOI":"10.1210\/jc.2009-0172","article-title":"Steroid 17alpha-hydroxylase deficiency: Functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene","volume":"94","author":"Dhir","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.jsbmb.2016.02.002","article-title":"Steroid 17-hydroxylase and 17,20-lyase Deficiencies, Genetic and Pharmacologic","volume":"165","author":"Auchus","year":"2017","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1210\/jcem-55-3-487","article-title":"Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency","volume":"55","author":"Zachmann","year":"1982","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1210\/jcem-57-1-32","article-title":"Male Pseudohermaphroditism due to 17,20-Desmolase Deficiency","volume":"57","author":"Kaufman","year":"1983","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_122","first-page":"97","article-title":"Conversion from pure 17,20-desmolase- to combined 17,20-desmolase\/17 alpha-hydroxylase deficiency with age","volume":"127","author":"Zachmann","year":"1992","journal-title":"Acta Endocrinol. (Copenh.)"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"S58","DOI":"10.1007\/BF02125441","article-title":"Endocrine findings in male pseudohermaphroditism","volume":"152","author":"Zachmann","year":"1993","journal-title":"Eur. J. Pediatr."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1210\/jc.2011-2161","article-title":"The Syndrome of 17,20 Lyase Deficiency","volume":"97","author":"Miller","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1159\/000453613","article-title":"Pubertal Development in17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency","volume":"87","author":"Hiort","year":"2017","journal-title":"Horm. Res. Paediatr."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1515\/jpem-2014-0354","article-title":"17\u03b2HSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate","volume":"28","author":"Sagsak","year":"2015","journal-title":"J. Ped. Endocrinol. Metab."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000318004","article-title":"The Clinical and Molecular Heterogeneity of 17\u03b2HSD-3 Enzyme Deficiency","volume":"74","author":"George","year":"2010","journal-title":"Horm. Res. Paediatr."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1210\/jcem-36-5-867","article-title":"Male pseudohermaphroditism due to testicular 17\u03b2-hydroxysteroid dehydrogenase deficiency","volume":"36","author":"Goebelsmann","year":"1973","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_129","first-page":"1213","article-title":"Steroid 5\u03b1-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism","volume":"186\/4170","author":"Guerrero","year":"1974","journal-title":"Science"},{"key":"ref_130","first-page":"637","article-title":"Male Pseudohermaphroditism Secondary to 5 Alpha-Reductase Deficiency\u2014A Model for the Role of Androgens in Both the Development of the Male Phenotype and the Evolution of a Male Gender Identity","volume":"11\/1","author":"Peterson","year":"1979","journal-title":"J. Steroid Biochem."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1056\/NEJM197410312911806","article-title":"Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias","volume":"291","author":"Walsh","year":"1974","journal-title":"N. Engl. J. Med."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"575","DOI":"10.4103\/ijem.IJEM_271_19","article-title":"Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley","volume":"23","author":"Misgar","year":"2019","journal-title":"Indian J. Endocrinol. Metab."},{"key":"ref_133","unstructured":"Kumar, G., and Barboza-Meca, J.J. (2020). 5 Alpha Reductase Deficiency, StatPearls Publishing."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1507\/endocrj.EJ19-0111","article-title":"Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5\u03b1-reductase type 2 deficiency","volume":"66","author":"Sasaki","year":"2019","journal-title":"Endocr. J."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1016\/0002-9378(53)90359-7","article-title":"The syndrome of testicular feminization in male pseudohermaphrodites","volume":"65","author":"Morris","year":"1953","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_136","first-page":"86","article-title":"Hereditary familiar hypogonadism","volume":"3","author":"Reifenstein","year":"1947","journal-title":"Proc. Am. Fed. Clin. Res."},{"key":"ref_137","first-page":"93","article-title":"Etude d\u2019un cas familial d\u2019androgyno\u00efdisme avec hypospadias grave, gyn\u00e9comastie et hyperoestrog\u00e9nie (Case of familial androgynism with severe hypospadias, gynecomastia and excessive estrogen production)","volume":"18","author":"Sebaoum","year":"1957","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Rosewater, S., Gwinup, G., and Hamwi, G. (1965). Familial Gynecomastia. Ann. Int. Med.","DOI":"10.7326\/0003-4819-63-3-377"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1073\/pnas.73.3.891","article-title":"Androgen insensitivity in man: Evidence for genetic heterogeneity","volume":"73","author":"Amrhein","year":"1976","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"906","DOI":"10.3389\/fendo.2019.00906","article-title":"Hypogonadism and Cryptorchidism","volume":"10","author":"Rodprasert","year":"2020","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s12958-020-00593-0","article-title":"Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients","volume":"18","author":"Liu","year":"2020","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref_142","unstructured":"Hutson, J.M., Feingold, K.R., Anawalt, B., Boyce, A., Chrousos, G., and Dungan, K. (2018). Cryptorchidism and Hypospadias, Endotext (Internet); MDText.com, Inc.. NBK279106."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1186\/s13023-020-01459-9","article-title":"Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: Case series and review of literature","volume":"15","author":"Li","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_144","unstructured":"Donaire, A.E., and Mendez, M.D. (2020). Hypospadias, StatPearls Publishing. NBK482122."},{"key":"ref_145","first-page":"387","article-title":"A Novel Mutation of AMHR2 in Two Siblings with Persistent M\u00fcllerian Duct Syndrome","volume":"10","author":"Unal","year":"2018","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.fertnstert.2013.11.011","article-title":"Fertility in Patients with Genetic Deficiencies of Cytochrome P450c17 (CYP17A1): Combined 17-hydroxylase\/17,20-lyase Deficiency and Isolated 17,20-lyase Deficiency","volume":"101","author":"Marsh","year":"2014","journal-title":"Fertil. Steril."},{"key":"ref_147","doi-asserted-by":"crossref","unstructured":"Yatsuga, S., Amano, N., Nakamura-Utsunomiya, A., Kobayashi, H., Takasawa, K., Nagasaki, K., Nakamura, A., Nishigaki, S., Numakura, C., and Fujiwara, I. (2020). Clinical Characteristics of Cytochrome P450 Oxidoreductase Deficiency: A Nationwide Survey in Japan. Endocr. J.","DOI":"10.1507\/endocrj.EJ20-0011"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1093\/humrep\/deaa020","article-title":"Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations","volume":"35","author":"Papadakis","year":"2020","journal-title":"Hum. Reprod."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"dgaa076","DOI":"10.1210\/clinem\/dgaa076","article-title":"Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient with R550W Mutation in POR: Expanding the PORD Phenotype","volume":"105","author":"Parween","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/humrep\/den118","article-title":"Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"23","author":"Hagenfeldt","year":"2008","journal-title":"Hum. Reprod."},{"key":"ref_151","first-page":"677","article-title":"Fertility in patients with congenital adrenal hyperplasia","volume":"19","author":"Stikkelbroeck","year":"2006","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_152","first-page":"294","article-title":"Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene","volume":"68","author":"Simm","year":"2007","journal-title":"Horm. Res."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1023\/A:1021206704958","article-title":"Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility","volume":"20","author":"Levran","year":"2003","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1210\/jc.2015-3201","article-title":"Successful Live Birth in a Woman With 17\u03b1-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer","volume":"101","author":"Bianchi","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1093\/oxfordjournals.humrep.a136319","article-title":"Induction of artificial endometrial cycles with oestradiol implants and injectable progesterone: Establishment of a viable pregnancy in a woman with 17-alpha-hydroxylase deficiency","volume":"10","author":"Siegal","year":"1995","journal-title":"Hum. Reprod."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1093\/humrep\/dew239","article-title":"Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): A case report","volume":"31","author":"Albarel","year":"2016","journal-title":"Hum. Reprod."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1210\/jcem-72-3-560","article-title":"A new cause of female pseudohermaphroditism: Placental aromatase deficiency","volume":"72","author":"Shozu","year":"1991","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"e231267","DOI":"10.1136\/bcr-2019-231267","article-title":"Aromatase deficiency: A rare cause of maternal virilisation and ambiguous genitalia in neonates","volume":"12","author":"Alsaleem","year":"2019","journal-title":"BMJ Case Rep."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"bvaa030","DOI":"10.1210\/jendso\/bvaa030","article-title":"Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function","volume":"4","author":"Praveen","year":"2020","journal-title":"J. Endocr. Soc."},{"key":"ref_160","unstructured":"Sonne, J., and Lopez-Ojeda, W. (2020). Kallmann Syndrome, StatPearls Publishing."},{"key":"ref_161","first-page":"203","article-title":"The genetic aspects of primary eunuchoidism","volume":"48","author":"Kallmann","year":"1944","journal-title":"Am. J. Ment. Defic."},{"key":"ref_162","first-page":"211","article-title":"Teratologia: Falta total de los nervios oplfatorios con anosmia en un individuo en quien existia una atrofia congenita de los test\u00edculos y miembro viril","volume":"3","year":"1856","journal-title":"El Siglo Medico"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"296","DOI":"10.3109\/09513590.2012.752459","article-title":"Kallmann Syndrome in Women: From Genes to Diagnosis and Treatment","volume":"29","author":"Meczekalski","year":"2013","journal-title":"Gynecol. Endocrinol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/1750-1172-6-41","article-title":"Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland","volume":"6","author":"Laitinen","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/0006-8993(95)00283-V","article-title":"Functionally Mature Olfactory Neurons from Two Anosmic Patients With Kallmann Syndrome","volume":"681","author":"Rawson","year":"1995","journal-title":"Brain Res."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism\u2014Pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"456","DOI":"10.3803\/EnM.2015.30.4.456","article-title":"Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future","volume":"30","author":"Kim","year":"2015","journal-title":"Endocrinol. Metab. (Seoul)"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ecl.2017.01.010","article-title":"Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism","volume":"46","author":"Latronico","year":"2017","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s42000-018-0061-1","article-title":"Unilateral Renal Agenesis as an early marker for genetic screening in Kallmann Syndrome","volume":"18","author":"Stamou","year":"2019","journal-title":"Hormones (Athens)"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s40520-015-0421-5","article-title":"Bone involvement in males with Kallmann disease","volume":"27","author":"Iolascon","year":"2015","journal-title":"Aging Clin. Exp. 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