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Article

5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2005

Skordis Nicos, Patsalis Philippos C, Bacopoulou Ioanna, Sismani Carolina, Sultan Charles, Lumbroso Serge

Abstract excerpt

INTRODUCTION: 5alpha-Steroid reductase deficiency (5alphaSRD) is an autosomal recessive enzymatic deficiency. Mutations in the 5alpha-steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphroditism caused by decreased dihydrotestosterone (DHT) synthesis--a key hormone of virilization of male external genitalia. AIM: To study for the first time patients from the Greek Cypriot population, describe their...

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PMID: 15813602
DOI: 10.1515/jpem.2005.18.3.241

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.PMID 15813602Read ↗

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