Bilateral ovarian steroid cell tumor in congenital adrenal hyperplasia dueto classic 11 beta-hydroxylase deficiency

An 8.7 year-old patient, raised as a boy, presented with premature appearan ce of pubic hair and accelerated growth since 2 years of age and ambiguous genitalia noted at birth. There was first degree consanguinity between his parents. A similar problem was reported in a cousin. Examination of the ext ernal genitalia revealed complete scrotal fusion, a 5 cm long phallus, urog enital sinus at base of phallus' with no gonads palpable. Pigmentation was increased. His blood pressure was 150/100 mm Hg. Pubic and axillary hair we re at stage 3. Bone age was 17 years. Adrenal ultrasound was normal. Pelvic ultrasound showed relatively enlarged uterus and ovaries with normal echog enicity. Karyotype was 46,XX. Hormone profile was compatible with congenita l adrenal hyperplasia (CAH) due to 11 beta-hydroxylase deficiency (11-deoxy cortisol: 11.5 nmol/l [400 ng/dl] {normal: 0.6-4.5 nmol/l [20-155 ng/ml]}, androstenedione: 17.4 nmol/l [5 ng/ml] {normal: 0.1-1.2 nmol/l [0.03-0.35 n g/ml]}). Prednisolone and antihypertensive drugs were started, The patient underwent bilateral salpingo-oophorectomy and hysterectomy at 9.1 years. Hi stopathological examination of both ovaries revealed steroid cell tumor. Th e type of the tumor was "not otherwise specified" (NOS). Basal hormone leve ls and ACTH test performed 10 months after the operation and 7 days off tre atment reconfirmed the diagnosis of 11 beta-hydroxylase deficiency. Steroid cell tumors are extremely rare forms of steroid hormone-reducing ovarian n eoplasms in childhood and may coexist with or imitate virilizing CAH.