Abstract
Fetal masculinization of maternal ovarian origin is usually caused by androgen secreting tumors. The case of a severely masculinized female infant described here is believed to have been caused by transplacental transfer of maternal testosterone probably secreted by polycystic ovaries. Ovulation was induced by Clomid. Hirsutism and cystic acne developed during pregnancy. Baby was delivered at term by C-section. Polycystic ovaries were observed at operation. Other than ambiguous external genitalia the infant was healthy. Scrotum was small but well formed. Phallus measured 20 mm with a small opening at the base. No gonads were palpable. Genitogram showed a urethral tract with no evidence of a vagina. Karyotype showed a normal (46 XX) chromosomes. Cord testosterone was 1232 ng/dl. Cord and postnatal serum 17α-OH progesterone and urinary 17 KS, 17 KGS were all normal. Maternal testosterone at 9 days post-partum was 468 ng/dl and declined to 82 ng/dl at 18 days. Free testosterone remained elevated. 2000 HCG × 3 days did not increase testosterone. Prednisone failed to modify total and free testosterone. However, cyclic estrogen and progesterone lowered total and free testosterone to 10 ng/dl and 1.6 pg/ml respectively. At laparotomy the infant had normal ovaries, fallopian tubes and uterus, but no vaginal structure could be identified.
The extreme masculinization in this infant is probably caused by transplacental transfer of testosterone produced by polycystic ovaries under intense HCG stimulation.
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Abbassi, V., Gibbons, D. 168 FEMALE PSEUDOHERMAPHRODITISM CAUSED BY THE TRANSPLACENTAL TRANSFER OF TESTOSTERONE OF OVARIAN ORIGIN. Pediatr Res 19, 631 (1985). https://doi.org/10.1203/00006450-198506000-00188
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DOI: https://doi.org/10.1203/00006450-198506000-00188