{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T13:02:56Z","timestamp":1761310976632},"reference-count":18,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,9,1]]},"abstract":"Summary<\/jats:title>\nThe development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17\u03b2-hydroxysteroid-dehydrogenase type 3 (17\u03b2HSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (\u03944) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38\u200ang\/ml, \u03944>10.00\u200ang\/ml, and low testosterone\/\u03944 ratio=0.23. Magnetic resonance imaging of the abdominal\u2013pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3<\/jats:italic> gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist\/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17\u03b2HSD3 in the testicles and\/or extratesticular ability to convert \u03944 to testosterone by 17\u03b2HSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment.<\/jats:p>\n\nLearning points<\/jats:title>\n\n\n\nIn this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care.<\/jats:p>\n<\/jats:list-item>\n\nWe emphasize the psychological and social aspects in the sex assignment decision.<\/jats:p>\n<\/jats:list-item>\n<\/jats:list>\n<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/edm-14-0064","type":"journal-article","created":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T13:01:03Z","timestamp":1411477263000},"update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17\u03b2-hydroxysteroid-dehydrogenase type 3 enzyme deficiency"],"prefix":"10.1530","volume":"2014","author":[{"given":"Carla","family":"Costa","sequence":"first","affiliation":[]},{"given":"C\u00edntia","family":"Castro-Correia","sequence":"additional","affiliation":[]},{"given":"Alda","family":"Mira-Coelho","sequence":"additional","affiliation":[{"name":"1 Departments of Psychiatry"}]},{"given":"Bessa","family":"Monteiro","sequence":"additional","affiliation":[{"name":"2 Paediatric Surgery, Hospital S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Joaquim","family":"Monteiro","sequence":"additional","affiliation":[{"name":"2 Paediatric Surgery, Hospital S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Ieuan","family":"Hughes","sequence":"additional","affiliation":[{"name":"3 Endocrinology and Diabetology Unit, Department of Paediatrics, Addenbrook's Hospital, University of Cambridge, Cambridge, UK"}]},{"given":"Manuel","family":"Fontoura","sequence":"additional","affiliation":[]}],"member":"416","reference":[{"key":"ref11","first-page":"554","article-title":"Consensus statement on management of intersex disorders","volume":"91","year":"2006","journal-title":"Archives of Disease in Childhood"},{"key":"ref101","first-page":"554","article-title":"Consensus statement on management of intersex disorders","volume":"91","year":"2006","journal-title":"Archives of Disease in Childhood"},{"key":"ref01","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","year":"2010","journal-title":"Hormone Research in Paediatrics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1159\/000096644","article-title":"Regulation of Wolffian duct development","volume":"67","year":"2007","journal-title":"Hormone Research"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1111\/j.1365-2265.2007.02829.x","article-title":"Phenotypic variability in 17\u03b2-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls","volume":"67","year":"2007","journal-title":"Clinical Endocrinology"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/ng0594-34","article-title":"Male pseudohermaphroditism caused by mutations of testicular 17\u03b2-hydroxysteroid dehydrogenase 3","volume":"7","year":"1994","journal-title":"Nature Genetics"},{"key":"ref91","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","year":"2010","journal-title":"Hormone Research in Paediatrics"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1210\/jcem-32-5-604","article-title":"Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-Ketosteroid reductase defect. 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