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...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Aryldialkylphosphatase
- Calpain
- Child
- Child, Preschool
- DNA
- Female
- Humans
- Hyperandrogenism
- Infant
- Insulin Receptor Substrate Proteins
- Insulin-Like Growth Factor II