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Article

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.

The Journal of clinical endocrinology and metabolism - 1 Dec 2005

Thai Hanh T T, Kalbasi Mina, Lagerstedt Kristina, Frisén Louise, Kockum Ingrid, Nordenskjöld Agneta

Abstract excerpt

CONTEXT: Hypospadias is one of the most common malformations in man, with an incidence of 1:300 in newborn boys. No gene has been identified that causes isolated hypospadias, but the androgenic influence is important during male genital development. OBJECTIVE: A key enzyme for the androgenic function is steroid 5-alpha-reductase (SRD5A2). The V89L polymorphism in the SRD5A2 gene has been studied and found to be...

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PMID: 16174723
DOI: 10.1210/jc.2005-0446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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