Diagnosis typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Key diagnostic tests include:
Hormonal assays: Elevated levels of 17-hydroxyprogesterone (17-OHP) are indicative of CAH. Genetic testing: Identifying mutations in the CYP21A2 gene confirms the diagnosis. Imaging studies: Ultrasound or MRI may be used to examine the adrenal glands and reproductive organs.
