Article
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
Clinical genetics - 1 Nov 2013
Kaupert L C, Lemos-Marini S H V, De Mello M P, Moreira R P, Brito V N, Jorge A A L, Longui C A, Guerra G, Mendonca B B, Bachega T A
Abstract excerpt
The 21-hydroxylase deficiency (21OHD) is caused by CYP21A2 mutations resulting in severe or moderate enzymatic impairments. 21OHD females carrying similar genotypes present different degrees of external genitalia virilization, suggesting the influence of other genetic factors. Single nucleotide variants (SNVs) in the CYP3A7 gene and in its transcription factors, related to fetal 19-carbon steroid metabolism,...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Aryl Hydrocarbon Hydroxylases
- Child
- Child, Preschool
- Constitutive Androstane Receptor
- Cytochrome P-450 CYP3A
- Female
- Gene Frequency
- Genitalia
- Genotype
- Humans
- Infant, Newborn