A New Cause of Female Pseudohermaphroditism: Placental Aromatase Deficiency

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Abstract
A description is presented of the first documented case of placental aromatase deficiency. The deficiency caused maternal virilization during pregnancy and pseudohermaphroditism of the female fetus. A 24-yr-old primigravida showed progressive virilization during the third trimester. Urinary excretion of estrogen was less than 14 μmol/day between 35–38 weeks of pregnancy, although nonstress tests showed reactive patterns and serum levels of human placental lactogen were above 460 nmol/L. Maternal serum levels of estrogens were low, and those of androgens were high in the third trimester. A dehydroepiandrosterone sulfate loading test induced a marked increase in maternal serum levels of androgens, whereas no such increase was observed in estrogens. The woman delivered vaginally a live full-term infant who exhibited female pseudohermaphroditism. Cord serum levels of estrogens were extremely low, while those of androgens were high. The aromatase activity of the placenta, determined by the conversion of [7-3H]androstenedione to 17β-[7-3H]estradiol and [7-3H]estrone, were less than 0.03 fmol/μg protein·min (control, 9.6 ± 2.2 fmol/μg protein·min). The sulfatase activity of the placenta was 0.63 pmol/μg protein·min compared to 0.46 ± 0.16 pmol/μg protein·min in controls. The rate of aromatization by normal control placentas was the same as that obtained during coincubation of samples of normal placentas and that of the patient. Thus, the presence of aromatase inhibitor in the patient’s placenta was excluded.

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