{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:07:27Z","timestamp":1790626047115,"version":"4.1.0"},"reference-count":8,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We present a case of pseudovaginal perineoscrotal hypospadias, secondary to 5\u03b1-reductase deficiency presenting as gender dysphoria. This particular enzyme deficiency accounts for only a small number of disorders of sexual development cases worldwide. A feature of this disorder is the presence of ambiguous genitalia at birth followed by the development of male secondary sexual characteristics during puberty when testicular production of testosterone can compensate for previous low circulating levels of 5-dihydrotestosterone (DHT). Our described patient, raised female, presented with gender dysphoria with no male secondary sexual features given a bilateral orchidectomy in infancy.<\/jats:p>\n               <jats:p>Initial testing showed biochemical primary hypogonadism and whole-genomic sequencing demonstrated pathogenic compound heterozygous variants in the SRD5A2 gene. Treatment was commenced with injectable testosterone undecanoate leading to development of desired male secondary sexual characteristics.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae191","type":"journal-article","created":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T09:30:44Z","timestamp":1729243844000},"source":"Crossref","is-referenced-by-count":2,"title":["5\u03b1 Reductase Deficiency\u2014a Rare Cause of Ambiguous Genitalia and Gender Dysphoria"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8824-4899","authenticated-orcid":false,"given":"Ellen","family":"Wall","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Prince of Wales Hospital , Randwick 2031, NSW ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3667-2845","authenticated-orcid":false,"given":"Veena","family":"Jayadev","sequence":"additional","affiliation":[{"name":"Department of Andrology, Concord Repatriation General Hospital, Hospital Road , Concord 2139, NSW ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,10,18]]},"reference":[{"issue":"2","key":"2024110705243351900_luae191-B1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s42000-018-0013-9","article-title":"5--reductase type 2 deficiency: is there a genotype-phenotype correlation? A review","volume":"17","author":"Avenda\u00f1o","year":"2018","journal-title":"Hormones"},{"issue":"Suppl 2","key":"2024110705243351900_luae191-B2","first-page":"S496","article-title":"Ambiguous genitalia: an overview of 22 years experience and the diagnostic approach in the pediatric department Siriraj Hospital","volume":"85","author":"Nimkarn","year":"2002","journal-title":"J Med Assoc Thai"},{"issue":"4170","key":"2024110705243351900_luae191-B3","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1126\/science.186.4170.1213","article-title":"Steroid 5-reductase deficiency in man: an inherited form of male pseudohermaphroditism","volume":"186","author":"Imperato-McGinley","year":"1974","journal-title":"Science"},{"key":"2024110705243351900_luae191-B4","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1016\/j.urology.2022.03.019","article-title":"Pubertal suppression and surgical management of a patient with 5-alpha reductase deficiency","volume":"165","author":"McGee","year":"2022","journal-title":"Urology"},{"issue":"5","key":"2024110705243351900_luae191-B5","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/ped.14447","article-title":"Male assignment in 5-reductase type 2 deficiency with female external genitalia","volume":"63","author":"Konishi","year":"2021","journal-title":"Pediatr Int"},{"issue":"2","key":"2024110705243351900_luae191-B6","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","volume":"32","author":"Lombardo","year":"2012","journal-title":"J Neurosci"},{"issue":"2","key":"2024110705243351900_luae191-B7","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1006\/hbeh.2001.1684","article-title":"Androgens androgen receptors and male gender role behaviour","volume":"40","author":"Wilson","year":"2001","journal-title":"Horm Behav"},{"issue":"2","key":"2024110705243351900_luae191-B8","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.yfrne.2011.02.007","article-title":"Sexual differentiation of the human brain: relation to gender identity sexual orientation and neuropsychiatric disorders","volume":"32","author":"Bao","year":"2011","journal-title":"Front Neuroendocrinol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/11\/luae191\/60396599\/luae191.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/11\/luae191\/60396599\/luae191.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T05:24:50Z","timestamp":1730957090000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae191\/7826027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,18]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,10,18]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae191","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,11]]},"published":{"date-parts":[[2024,10,18]]},"article-number":"luae191"}}