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Article

Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism.

Hormone research - 1 Jan 2009

Ezquieta B, Oyarzabal M, Barrio R, Luzuriaga C, Hermoso F, Lechuga J L, Quinteiro S, Rodríguez A, Labarta J I, Gutierrez Macias A, Gallego M, Bellón J M

Abstract excerpt

AIMS: Hyperandrogenism, although mostly due to polygenic interactions, is monogenic for some enzymatic adrenal deficiencies. This study evaluates mono- and biallelic 21-hydroxylase deficiency (21OHD)-related hyperandrogenism in pediatric patients. Sensitizing and protective polymorphisms were investigated in carriers and cryptic forms of 21OHD. METHODS: The study involved a monogenic analysis of CYP21A2 in...

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Identifiers

PMID: 19039234
DOI: 10.1159/000173739

Genes

CAPN10
IGF2
IRS1
PON1

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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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