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Article

Primary adrenal insufficiency with normal male external genitalia in a boy with CYP11A1 deficiency.

BMJ case reports - 19 Sept 2024

Kaivallyam Ramachandran Sibi, Edavana Shaju, Moolath Sahla, Alam Ahmad

Abstract excerpt

The first and rate-limiting step of steroid hormone biosynthesis is catalysed by mitochondrial cytochrome P450 side-chain cleavage enzyme (CYP11A1). CYP11A1 deficiency is commonly associated with adrenal insufficiency and, in 46 XY individuals, with variable degrees of differences in sex development (DSD). Here, we present a case report of a preadolescent male who presented to our emergency outpatient department...

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PMID: 39304217
DOI: 10.1136/bcr-2024-261512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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