Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies.

[aromatase deficiency]

Aromatase deficiency due to a CYP 19 A 1 defect leads to fetoplacental inability to convert androgens into estrogens . Pregnant mothers experience virilization caused by excess nonaromatized fetal androgens entering the maternal circulation . Biochemical normalization is believed to take place shortly after delivery .We report prolonged postnatal hyperandrogenism and enlarged multicystic ovaries in the mother of an affected 46 ,XX infant and hypothesize a possible pathogenetic mechanism .We investigated the mother on days 12 and 20 after delivery . FSH , LH , T , estradiol (E 2 ), androstenedione (A ), dehydroepiandrosterone-sulfate (DHEA-S ), and human chorionic gonadotropin (hCG ) plasma levels were obtained , and ovarian ultrasonography and magnetic resonance imaging were performed .T (1040 ng /dL ), A (6940 ng /dL ), and E 2 (2787 pg /mL ) levels were markedly elevated on day 12 after delivery , whereas LH and FSH were suppressed (<0 .1 IU /L ). On day 20 , all hormones had decreased significantly ; however , T , A , and E 2 still remained 3 .5 -, 2 .2 -, and 1 .4 -fold elevated , respectively , as compared to upper reference values . hCG (18 .9 U /L ) was still increased . DHEA-S was normal on both occasions . Sonography and magnetic resonance imaging revealed enlarged ovaries , with several cysts up to 4 cm . There was no history of polycystic ovary syndrome .We hypothesize that persistent ovarian overstimulation by hCG had occurred in the mother during pregnancy , leading to prolonged autonomous excess production of androgens during the first weeks after delivery . As a causative mechanism , we propose that gestational hyperandrogenism and hypoestrogenism reduced inhibition of placental GnRH and hCG secretion by progesterone , resulting in persistently elevated hCG .

Diseases
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Diseases presenting "possible pathogenetic mechanism" symptom

aromatase deficiency

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