Aromatase Deficiency in Fetal Virilization

Abstract

Purpose Aromatase Deficiency is a rare cause of fetal virilization. We describe a rare case of aromatase deficiency responsible for virilization of an infant girl. Material and Methods Retrospective record review. Results An XX 3-year-old girl was referred to our department because of virilised genitalia. Congenital adrenal hyperplasia was ruled out. A pelvic ultrasound revealed a normal uterus and ovaries and no other abnormalities. During gestation, the mother had exhibited signs of masculinisation including development of a deep voice and acne. The physical examination of the girl showed a hypertrophic clitoris and prepuce with prominent labia majora. Genitography demonstrated a urogenital sinus with a common channel of the vagina and urethra. On blood examinations, there were high levels of testosterone, LH and FSH. At 3 months of testosterone and estradiol were within normal limits. At 14 months of age she underwent a feminising genitoplasty including a total urogenital mobilisation. The follow up shows a clearly female genital without any voiding problems, normal growth bone age. Hormonal blood values of testosterone, estradiol and LH remain normal, FSH is still elevated assuming to ovarial insufficiency. Conclusions In aromatase deficiency the placenta cannot convert androgenic precursors of oestrogens to oestradiol, which results in virilization of the mother and foetus. The girl is expected to have problems synthesizing oestradiol at puberty.