{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:41:17Z","timestamp":1791398477616,"version":"4.3.3"},"reference-count":20,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,6,17]]},"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Defects in the initial steps of steroidogenesis usually present with female external genitalia in both 46,XX and 46,XY. Hence, they are not often considered in the differential diagnosis of primary adrenal insufficiency children with normal male external genitalia. Here, we report a boy with normal male external genitalia who presented with hyperpigmentation since the age of 2\u2009years but diagnosis was delayed till 11 years of age. Evaluation revealed low-serum cortisol with elevated adrenocorticotropic hormone and direct renin level confirming primary adrenal insufficiency. Clinical exome sequencing analysis revealed a homozygous c.1351C&gt;T (p.R451W) mutation in exon 8 of the <jats:italic>CYP11A1<\/jats:italic> gene which was confirmed on Sanger sequencing. Both parents were heterozygous for the variation. To conclude, we report the first case of CYP11A1 deficiency from India. The report reiterates the existence of non-classic CYP11A1 deficiency characterised by primary adrenal insufficiency and normal male external genitalia in 46,XY.<\/jats:p>","DOI":"10.1136\/bcr-2018-228235","type":"journal-article","created":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T06:09:05Z","timestamp":1562652545000},"page":"e228235","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Normal male external genitalia do not rule out CYP11A1 deficiency"],"prefix":"10.1136","volume":"12","author":[{"given":"Vijaya","family":"Sarathi","sequence":"first","affiliation":[{"name":"Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, India"},{"name":"Endocrinology, Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chithambaram","family":"Nagalingam","sequence":"additional","affiliation":[{"name":"Paediatrics, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, 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SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure","volume":"2016","author":"Kaur","year":"2016","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"2025082708233065000_12.7.e228235.12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1828"},{"key":"2025082708233065000_12.7.e228235.13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1277"},{"key":"2025082708233065000_12.7.e228235.14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1118"},{"key":"2025082708233065000_12.7.e228235.15","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1515\/jpem-2015-0255","article-title":"First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic","volume":"29","author":"Pomaha\u010dov\u00e1","year":"2016","journal-title":"J Pediatr Endocrinol 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