P297: Identification of compound heterozygous CYP11A1 variants via reanalysis of clinical sequencing data

Genetics in Medicine Open 2026 Open access

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Authors: Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv K Bhalla, Jianghong An, Jan M Friedman, Rosanna Weksberg, Cornelius F. Boerkoel, Steven Jones, William T. Gibson
DOI: 10.1016/j.gimo.2026.103791
Cited by: 0

Abstract

Steroid hormone biosynthesis from cholesterol is essential for normal development and physiology. The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnenolone by P450scc, encoded by CYP11A1. Disruption of this enzyme causes primary adrenal insufficiency (PAI) with variable severity, sometimes accompanied by female or undervirilized external genitalia in 46,XY individuals. Presentation may occur in infancy or early childhood, depending on remaining enzyme activity.

Fields of Study & Subjects

Adrenal Hormones and Disorders Genomics and Rare Diseases Sexual Differentiation and Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103791–103791
Publication date
1 January 2026
Language
EN