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Embryology
What could be the cause of maternal adrenals to secrete high levels of androgen in the case of fetal female pseudohermaphroditism syndrome?
Females that exhibit this condition are often born to mothers who experience similar masculinization during their pregnancy. The cause is a hormonal imbalance, through which the female overproduces androgen. Polycystic ovary syndrome can be one potential cause of excessive androgen secretion that stimulates maternal and fetal masculinization during the pregnancy. In one case, "when newborn with female pseudohermaphroditism (profound masculinization of the external genitalia and preservation of the internal female genitalia) was present, during the woman's pregnancy "progressive hirsutism was noted in the mother, and polycystic ovaries were found at cesarean section. The serum testosterone level in the cord blood was elevated markedly (Bilowus, Abbassi, & Gibbons 1986, p.1098).
Another possible cause, only recently documented for maternal virilization during pregnancy and the pseudohermaphroditism of the female fetus, where maternal serum levels of estrogens were low, and those of androgens were high in the third trimester is that of placental aromatase deficiency.... 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" (Shozu, et.al 1991). Because of the relative rarity of this disorder, and the multiple hormonal conditions that can affect the mother during pregnancy, the exact cause of this disorder has proven unfortunately difficult to pinpoint. Also, certain causes, such as polycystic ovary syndrome, can be present before pregnancy, or develop during pregnancy, so noting the abnormal symptoms of the mother and tracing them to the pregnancy can likewise create a diagnostic challenge.
Works Cited
Bilowus M, V. Abbassi, & M.D. Gibbons MD. "Female pseudohermaphroditism in a neonate born to a mother with polycystic ovarian disease." Journal of Urology. 1986. Nov 136(5):1098-10. 18 Sept 2007. http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=3773077&dopt=AbstractPlus
Shozu, M., K. Akasofu, T. Harada, & Y. Kubota. "A new cause of female pseudohermaphroditism: placental aromatase deficiency." Journal of Clinical
Endocrinology & Metabolism. 72: 60-566
http://jcem.endojournals.org/cgi/content/abstract/72/3/560
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