ABSTRACT

11-β hydroxylase deficiency (11 OHD) is the second most frequent type of congenital adrenal hyperplasia other than 21-hydroxylase deficiency. Both type of enzyme deficiencies may lead to complete virilization (prader stage 5) in 46,XX individuals. Majority of the cases with 11 OHD manifest hypertension which distinguish this disorder from the more common 21-hydroxylase deficiency. Herein we reported a 16-year old boy who presented to the pediatric endocrinology outpatient clinic with the complaint of short stature and was found to have hypertension, hyperpigmented skin, facial acne and nonpalpable gonads despite his male-appearing external genitalia. Based on these findings, further evaluation revealed the diagnosis of 11 OHD, resulting in complete virilization in a 46,XX patient.