17-hydroxylase deficiency (17OHD) is a very rare disorder characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism, hypertension, and hypopotassemia. Mutations in the CYP17A1 gene cause 17OHD. Herein, we present three adolescents, one single and two cousins, with delayed puberty.
The patients were raised as girls. All of the patients were pre-pubertal. Initial clinical findings are given in the Table 1. Hydrocortisone, 17-beta estradiol, and antihypertensive treatments were initiated. First case achieved Tanner 5 breast development at 15.64 and had menarche at 15.72 years old. Alendronate was started due to osteoporosis (L-L4 BMD was -3.1). Second girl achieved Tanner 5 breast development at 15.08 and had menarche at 16.64 years old. The third patient could only been followed for six months because of advance age. A known mutation in the first patient and a novel mutation in the second patient were found in the CYP17A1 gene.
Adrenal functions as well as gonadotropins should be examined in adolescent girls with no thelarche and pubarche associated with hypertension, and 17OHD should not be forgotten.