{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:33:30Z","timestamp":1760783610052,"version":"3.44.0"},"reference-count":26,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Master N had genital malformation at birth and had bilateral gonads in the labial fold. He was reared as a boy and corrective surgery was done at the age of 4\u2005years and was reassessed at the age of 14\u2005years. His testosterone\/dihydrotestosterone (DHT) was 11.8 (reference range &lt;=10). Molecular analysis of SRD5A2 gene indicated the presence of a novel heterozygous missense mutation of p.A52T in exon 1, which was also detected in mother. The father, sister and maternal grandfather were found to have normal SRD5A2 gene sequence. We also detected an intronic (1\u20132) homozygous T&gt;C transition in patient, whereas both parents were found to have the same transition in heterozygous form. Although 5\u03b1-steroid reductase 2 deficiency is an autosomal-recessive disorder, in this case, it appears that there may be a dominant inheritance because only one identified mutation was present which was passed from mother to son.<\/jats:p>","DOI":"10.1136\/bcr-2012-007060","type":"journal-article","created":{"date-parts":[[2012,10,30]],"date-time":"2012-10-30T13:00:22Z","timestamp":1351602022000},"page":"bcr2012007060","source":"Crossref","is-referenced-by-count":6,"title":["Novel mutation of <i>SRD5A2<\/i> gene in a patient with 5\u03b1-reductase 2 deficiency from India"],"prefix":"10.1136","volume":"2012","author":[{"given":"Iram","family":"Shabir","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, AIIMS, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunice","family":"Marumudi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, AIIMS, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madan L","family":"Khurana","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, AIIMS, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Khadgawat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, AIIMS, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,10,30]]},"reference":[{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.1","doi-asserted-by":"publisher","DOI":"10.1080\/09513590802055708"},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4170.1213"},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.3","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(77)90313-8"},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.4","unstructured":"Imperato-McGinley J . Male pseudohermaphroditism. In: Adashi EY Rock JA Rosenwaks Z . Reproductive endocrinology, surgery, and technology. Philadelphia: Lippincott-Raven Publishers, 1966:936\u201355."},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.5","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2008.21.2.173"},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.6","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1515\/JPEM.2002.15.4.423","article-title":"Etiology, clinical profile, gender identity and long term follow up of patients with ambiguous genitalia in India","volume":"15","author":"Ammini","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082802491150000_2012.oct30_1.bcr2012007060.7","unstructured":"Griffin JE McPhaul MJ Russell DW . The androgen resistance syndromes: steroid 5a-reductase type 2 deficiency, testicular feminization and related disorders. The metabolic and molecular basis of inherited diseases. 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