Article
New genetic abnormalities in non-21α-hydroxylase-deficiency congenital adrenal hyperplasia.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2013
Martin M, Najera N, Garibay N, Malanco L M, Martinez T, Rivera J, Rivera M, Queipo G
Abstract excerpt
Congenital adrenal hyperplasia comprises a group of autosomal recessive disorders of sexual differentiation and development that occur due to deficiencies in steroidogenic enzymes within the adrenal gland. Using clinical, biochemical, and sequencing data, we describe non-21α-hydroxylase deficiencies in 6 individuals from 4 families originating from endogamic regions in Mexico. Three individuals had 11β-...
Topics
- Adrenal Hyperplasia, Congenital
- Child, Preschool
- DNA Mutational Analysis
- Female
- Founder Effect
- Homozygote
- Humans
- Male
- Mexico
- Mutagenesis, Insertional