Deficiency of 21-hydroxylase (CYP21A2 gene) leads ultimately to an increased production of androgens in the organism and constitutes the most frequent cause of congenital adrenal hyperplasia. In its “classic” from, the majority of patients exhibit virilization and hyponatraemia, correlated to decreased production or total absence of the enzyme and manifested early in prenatal or perinatal life. The “non-classic” form relates to a moderate decrease in the production of the enzyme and is manifested postnatally.
Congenital Adrenal Hyperplasia (21- hydroxylase deficiency, CAH)
NOTE: Our laboratory participates with great success in the external quality assessment scheme organized by the European Molecular Genetics Quality Network (EMQN), which is periodically applied on detection of Congenital Adrenal Hyperplasia – CYP21A2.
The test is designed to detect 16 known mutations of the CYP21A2 gene and includes complete analysis of deletions/duplications, covering in total >99% of all pathological mutations of this gene.
For all prenatal molecular genetic testing, we perform analysis of polymorphic STR markers from a maternal blood sample and the fetal sample, in order to exclude any possible maternal cell contamination. Thus, for prenatal diagnosis, 1-2ml of a maternal blood sample should always accompany the fetal sample (amniotic fluid or CVS).