Article

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

2026-06-17

Abstract excerpt

<title>Abstract</title> <p> Steroid 5α-reductase deficiency is a rare autosomal recessive condition caused by mutations in the <italic>SRD5A2</italic> 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,...

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Literature Corpus work: 0f91e11a-86b5-5199-9b64-88a23c2bb19b
DOI: 10.21203/rs.3.rs-9225628/v1

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