Article
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Molecular diagnosis & therapy - 1 Sept 2023
Concolino Paola, Perrucci Alessia, Carrozza Cinzia, Urbani Andrea
Abstract excerpt
INTRODUCTION: Defects in the steroid 21-hydroxylase gene (CYP21A2) cause 21-hydroxylase deficiency (21OHD), the main cause of congenital adrenal hyperplasia (CAH). The disease shows a broad spectrum of clinical forms, ranging from severe or classical (salt wasting, SW, and simple virilizing, SV), to mild late onset or nonclassical (NC). 21OHD affects 1 in 15,000 in its severe classic form and 1 in 200-1000 in its...
Topics
- Humans
- Adrenal Hyperplasia, Congenital
- Mutation
- DNA Copy Number Variations
- Steroid 21-Hydroxylase
- Phenotype
- Multiplex Polymerase Chain Reaction
- Genotype