Review Article
Year: 2016 | Month: December | Volume: 6 | Issue: 12 | Pages: 302-310
Congenital Adrenal Hyperplasia in Saudi Arabia
Nasir A.M. Al Jurayyan
Professor and Senior Consultant, Endocrine Division, Departments of Pediatrics, College of Medicine & King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
ABSTRACT
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.
Key words: Congenital adrenal hyperplasia, cortisol deficiency, Androgen excess, epidemiology, Management, Saudi Arabia.