Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder resulting from a deficiency of one of the enzymes necessary for cortisol synthesis. As a result, decreased cortisol synthesis, increased adrenocorticotropin (ACTH) hormone via negative feedback system and over production of the hormones prior to the enzymatic defect. It is not a rare disorder in Saudi Arabia, where more than 90% of cases are due to 21-hydroxylase deficiency. Variable clinical forms ranging from the severe classical CAH, associated with complete loss of enzyme function to the milder non-classical forms (NCAH) where encounter.
This review presents an overview of the various types of CAH in Saudi Arabia, particularly the most common type 21-hydroxylase deficiency, highlighting its epidemiology, clinical presentation, diagnosis and management.
Congenital adrenal hyperplasia, cortisol deficiency, Androgen excess, epidemiology, Management, Saudi Arabia.