Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency.To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyzed using PCR.A total of 297 Hungarian patients with 21hydroxylase deficiency are registered in the 2nd Department of Pediatrics, Budapest, Hungary, and their clinical status was evaluated.Blood samples for CYP21 genotype determination could be obtained