Congenital adrenal hyperplasia: phenotype and genotype.

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a monogenic autosomal recessive condition manifested as a heterogeneous phenotype and caused by mutations in the CYP21 gene on chromosome 6p21.3. More than 50 mutations have been described, of which about 10 types account for >90% of affected alleles. Conco...

Topics

• 17-alpha-Hydroxyprogesterone
• Adrenal Hyperplasia, Congenital
• Female
• Genotype
• Humans
• Infant, Newborn
• Male
• Neonatal Screening
• Phenotype
• Prenatal Diagnosis
• Steroid 21-Hydroxylase