{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T17:17:23Z","timestamp":1788628643315,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,9]],"date-time":"2015-10-09T00:00:00Z","timestamp":1444348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Department of Science and Technology for the fellowship","award":["IF10520"],"award-info":[{"award-number":["IF10520"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Deficiency of the 5\u03b1\u2010reductase 2 enzyme impairs the conversion of testosterone to dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the phenotype, genotype and gender identity in a large cohort of patients with 5\u03b1RD2. All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of the<jats:italic>SRD5A2<\/jats:italic>gene. The molecular analysis of the<jats:italic>SRD5A2<\/jats:italic>gene showed the presence of mutant alleles in 24 patients. We found 6 novel mutations IVS(1\u20102) T&gt;C, p.A52T, 188\u2010189insTA, 904\u2010905ins A, p.A12T and p.E57X in our patients. All patients had ambiguous genitalia and the degrees of under\u2010virilization ranged from penoscrotal hypospadias and microphallus to clitoromegaly. The position of gonads was variable in patients with same mutation. All the patients with mutations in the<jats:italic>SRD5A2<\/jats:italic>gene had male gender identity. Those reared as female had gender dysphoria and underwent gender reassignment. Though a specific genotype\u2013phenotype correlation could not be established in our patient but confirming the diagnosis of 5\u03b1RD2 with assessment of the<jats:italic>SRD5A2<\/jats:italic>gene may help in appropriate gender assignment.<\/jats:p>","DOI":"10.1111\/andr.12108","type":"journal-article","created":{"date-parts":[[2015,10,10]],"date-time":"2015-10-10T03:30:46Z","timestamp":1444447846000},"page":"1132-1139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Phenotype, genotype and gender identity in a large cohort of patients from India with 5<i>\u03b1<\/i>\u2010reductase 2 deficiency"],"prefix":"10.1111","volume":"3","author":[{"given":"I.","family":"Shabir","sequence":"first","affiliation":[{"name":"Department of Endocrinology &amp; Metabolism All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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