WHO-ICD-10 version:2010
Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
Mode of Inheritance
Autosomal recessive
Congenital adrenal hyperplasia (CAH) is a genetic disorder resulting from total or partial deficiency of an enzyme involved in cortisol and aldsosterone biosynthesis. In 95% of the cases of CAH, this enzyme is the 21-hydroxylase, which is responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycorticsol. The deficiency of this enzyme leads not only to loss of cortisol synthesis, but also to the accumulation of cortisol precursors, and increase in ACTH, and consequently, androgen levels.