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)...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Child, Preschool
- Female
- Gene Frequency
- Genotype
- Humans
- Infant
- Infant, Newborn
- Italy