Abstract
Congenital adrenal hyperplasia represents a group of autosomal recessive diseases resulting from mutations of enzyme genes mediating biochemical steps of steroidogenesis. The most frequent type of congenital adrenal hyperplasia is 21-hydroxylase deficiency.
Reduced quality of life is a known consequence of chronic disease in children. Previously published studies about patients' quality of life were limited (due to preference of adult or male population).
The aim of this study was to identify pediatric patients with 21-hydroxylase deficiency in the Czech Republic and to describe their quality of life. In 56 patients, available data allowed evaluation.
Children with 21-hydroxylase did not report lower quality of life. However, their parents reported limitation in family (mainly in travelling, responsibility, using of medication or hospitalization).
None of patients felt psychic problems. The rate of homosexuality in adolescents was greater (40%) in relation to the general population.