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Primary adrenal insufficiency with normal male external genitalia in a boy with CYP11A1 deficiency
  1. Sibi Kaivallyam Ramachandran1,
  2. Shaju Edavana2,
  3. Sahla Moolath3 and
  4. Ahmad Alam4
  1. 1Department of Paediatric Endocrinology, Valluvanad Hospital Complex Limited, Palakkad, Kerala, India
  2. 2West Midlands Deanery, Edgbaston, Birmingham, UK
  3. 3Department of Paediatrics, Valluvanad Hospital Complex Limited, Palakkad, Kerala, India
  4. 4Rajiv Gandhi Centre for Diabetes and Endocrinology, Jawaharlal Nehru Medical College and Hospital, Aligarh, India
  1. Correspondence to Dr Ahmad Alam; drahmad.jnmch{at}gmail.com

Abstract

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 in a state of decompensated shock necessitating ionotropic support. Further evaluation confirmed primary adrenal insufficiency. Subsequent clinical exome sequencing uncovered a compound heterozygous mutation in exons one and five of the CYP11A1 gene. This case highlights the varied presentation of CYP11A1 deficiency, showing that it can present as adrenal insufficiency without DSD.

  • Adrenal disorders
  • Genetics
  • Pediatrics

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: SKR, SE, SM and AA. The following authors gave the final approval of the manuscript: SKR, SE and AA.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.