Congenital adrenal hyperplasia (CAH) is a term covering a group of autosomal recessive disorders resulting from a deficiency of one of the required enzymes for the steroid biosynthesis (cortisol, aldosterone, or both) in the adrenal glands. The most common etiology of CAH is a 21-hydroxylase deficiency, due to mutations or deletions of CYP21A, which accounts for more than 90% of CAH cases. On the other hand, 17-hydroxylase deficiency is a rare cause of CAH accounting for approximately 1% of cases.[1] Among the CAH disorders, the particular phenotype that results depends on the sex of the individual, the type of deficit, and the severity of the deletion or genetic mutation. Unlike 21-hydroxylase deficiency, the 17-hydroxylase deficiency does not get identified by newborn screening and is typically identified later due to ambiguous genitalia, delayed sexual maturation, hypertension, or hypokalemia. In general, the 17-hydroxylase deficiency expresses as sexual infantilism in 46XX females and ambiguous genitalia in 46XY males. This activity will focus on the etiology, epidemiology, clinical features of this rare genetic disorder. Moreover, it will also cover the role of a multi-professional team for early diagnosis and prompt management.