Article
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Clinical genetics - 1 Feb 2018
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci M C, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G
Abstract excerpt
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.