Congenital Adrenal Hyperplasia (CAH), is a group of genetic conditions affecting the adrenal glands which produce hormones essential to body functions and sexual development. CAH results from a deficiency in one of two enzymes involved in cortisol biosynthesis. In about 95% of cases, disease-causing mutations in the CYP212A gene will result in a deficiency of the enzyme 21-hydroxylase, hindering the conversion of 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol. This will lead to an overproduction of cortisol, which causes an excessive production of androgens, resulting in virilization.
First Genomix performs full gene sequencing by Sanger Method to identify disease-causing CYP212A gene variants.
Genetic testing for 21-hydroxylase-deficient CAH is recommended in the following cases:
Genetic testing for 21-hydroxylase-deficient CAH plays a pivotal role in early diagnosis, personalized treatment, and informed family planning. Alongside genetic testing, counseling support can provide guidance, helping individuals to make informed decisions and cope with the emotional aspects of managing the disorder.
The genetic report includes the full range of possible disease-causing gene variants of CYP21A2 detected by Sanger full gene sequencing method.