{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T23:32:20Z","timestamp":1783035140321,"version":"3.54.6"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,2,27]],"date-time":"2022-02-27T00:00:00Z","timestamp":1645920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe Asian Indian patients with 17\u03b2 hydroxysteroid dehydrogenase 3 (17\u03b2HSD3) deficiency and to perform a systematic review to determine the factors influencing gender role in 46,XY disorder of sex development (DSD) due to 17\u03b2HSD3 deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Design<\/jats:title><jats:p>We present the phenotypic and genotypic data of 10 patients (9 probands and 1 affected family member) with 17\u03b2HSD3 deficiency from our 46,XY DSD cohort (<jats:italic>N<\/jats:italic>\u2009=\u2009150; Western India) and a systematic review of 152 probands with genetically proven, index 17\u03b2HSD3 deficiency patients from the world literature to identify the determinants of gender role.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>17\u03b2HSD3 deficiency was the third most common (6%) cause of non\u2010dysgenetic 46,XY DSD in our cohort. Five patients each had prepubertal (atypical genitalia) and pubertal (primary amenorrhoea) presentations. Six patients were initially reared as female of whom two (one each in prepubertal and pubertal age) changed their gender role. Ten pathogenic molecular variants (six novel) were observed. In the systematic review, initial male sex of rearing was uncommon (10.5%) and was associated with atypical genitalia, higher testosterone\/androstenedione (T\/A) ratio\u00a0and Asian origin. Gender role change to male was seen in 10.3% of patients with initial female sex of rearing and was associated with Asian origin but unrelated to pubertal androgens or molecular variant severity. It has not been reported in patients of European origin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report the first Indian case series of 17\u03b2HSD3 deficiency, the third most common cause of 46,XY DSD, with six novel molecular variants. Distinct geographical differences in the frequency of initial male sex of rearing and gender role change to male in those initially reared as females in 17\u03b2HSD3 deficiency were noted which needs further evaluation for the underlying molecular mechanisms.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14694","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T10:31:12Z","timestamp":1645007472000},"page":"43-51","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["17\u03b2 hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role\u2010focused systematic review"],"prefix":"10.1111","volume":"97","author":[{"given":"Brijesh","family":"Krishnappa","sequence":"first","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sneha","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":false,"given":"Anurag R.","family":"Lila","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Vydehi Institute of Medical Sciences and Research Centre  Bangalore Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba S.","family":"Memon","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Barnabas","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bajarang V.","family":"Kumbhar","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay  Powai, Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishwambhar V.","family":"Bhandare","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay  Powai, Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virendra","family":"Patil","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalini S.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8671-7816","authenticated-orcid":false,"given":"Ambarish","family":"Kunwar","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay  Powai, Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6902-4639","authenticated-orcid":false,"given":"Tushar","family":"Bandgar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14528"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"130","article-title":"Molecular genetics and pathophysiology of 17beta\u2010hydroxysteroid dehydrogenase 3 deficiency","volume":"81","author":"Andersson S","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-0760(92)90327-F"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2017.08.012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.05.002"},{"issue":"12","key":"e_1_2_9_7_1","first-page":"4713","article-title":"17Beta\u2010hydroxysteroid dehydrogenase\u20103 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations","volume":"84","author":"Boehmer AL","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"e_1_2_9_8_1","first-page":"26","article-title":"Clinical, endocrine, and molecular genetic findings in patients with 17beta\u2010hydroxysteroid dehydrogenase deficiency","volume":"53","author":"Twesten W","year":"2000","journal-title":"Horm Res"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02829.x"},{"issue":"1","key":"e_1_2_9_10_1","first-page":"41","article-title":"Human Chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46,XY disorders of sex development","volume":"12","author":"Bertelloni S","year":"2018","journal-title":"Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10508-005-4339-4"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01866"},{"key":"e_1_2_9_13_1","first-page":"1","article-title":"Clinical, hormonal, genetic, and molecular characteristics in androgen insensitivity syndrome in an Asian Indian Cohort from a Single Centre in Western India","volume":"15","author":"Arya S","year":"2021","journal-title":"Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-19-1050"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000137657"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-18-0376"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2017.01.037"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsxm.2017.07.006"},{"issue":"4","key":"e_1_2_9_19_1","first-page":"161","article-title":"Testosterone synthesis in patients with 17\u03b2\u2010hydroxysteroid dehydrogenase 3 deficiency","volume":"6","author":"Werner R","year":"2012","journal-title":"Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ"},{"issue":"3","key":"e_1_2_9_20_1","first-page":"773","article-title":"Mechanisms of androgen production in male pseudohermaphroditism due to 17beta\u2010hydroxysteroid dehydrogenase deficiency","volume":"75","author":"R\u00f6sler A","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000442975"},{"key":"e_1_2_9_22_1","first-page":"220","article-title":"A contribution to the study of gender identity","volume":"45","author":"Stoller RJ","year":"1964","journal-title":"Int J Psychoanal"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345738"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-020-01248-y"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0994"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2004.02.014"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(83)90233-9"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-9566.12812"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.20.5.0377"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200009000-00003"},{"issue":"5","key":"e_1_2_9_31_1","first-page":"1827","article-title":"A (R80Q) mutation in 17beta\u2010hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females","volume":"81","author":"R\u00f6sler A","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.32677\/IJCH.2019.v06.i11.013"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14694","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cen.14694","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14694","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T07:32:39Z","timestamp":1692862359000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.14694"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,27]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/cen.14694"],"URL":"https:\/\/doi.org\/10.1111\/cen.14694","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,27]]},"assertion":[{"value":"2021-10-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}