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Article

Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency.

Scientific reports - 4 Aug 2026

Werner Ralf, Basina Anna, Künstner Axel, Prakash Sudharsan Agas Chandra, Kösem Kübra, Kulle Alexandra, Hornig Nadine C, Wudy Stefan A, Hartmann Michaela F, Holterhus Paul-Martin, Busch Hauke, Hiort Olaf

Abstract excerpt

Steroid 5α-reductase deficiency is a rare autosomal recessive condition caused by mutations in the SRD5A2 gene that leads to a severe virilisation deficit of the external genitalia in individuals with a 46,XY karyotype. Here we report an adult 46,XY person with clinically confirmed steroid 5α-reductase deficiency. Sanger sequencing revealed a compound heterozygous, maternal, pathogenic c.692A > G; p.(His231Arg)...

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Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42552333
DOI: 10.1038/s41598-026-64581-x
PMCID: PMC13438754

Genes

SRD5A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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