Article
Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
Hormone research in paediatrics - 1 Jan 2023
Navarro-Zambrana Andrea N, Sheets Lincoln R
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder that causes defects in the adrenal cortex enzymes that impair the biosynthesis of cortisol, aldosterone, or both. The most common type is the 21-hydroxylase enzyme deficiency in approximately 95% of cases resulting from CYP21A2 gene mutations or deletions. OBJECTIVES: This study aimed to systematically review the national...
Topics
- Infant, Newborn
- Humans
- Adrenal Hyperplasia, Congenital
- Neonatal Screening
- Adrenal Cortex
- Mutation
- Steroid 21-Hydroxylase