Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency.

[aromatase deficiency]

Insulin resistance (IR ), abnormal lipid profile , and other features of the metabolic syndrome have been described in CYP 19 gene knockout mice and in aromatase-deficient adult men but not in prepubertal affected girls .To study insulin sensitivity , as well as the effects of estrogen , metformin and GnRHa treatment on glucose homeostasis , in an aromatase-deficient girl .Clinical , metabolic and hormonal follow-up data , from 8 to 12 years of age , is presented .At 9 years of age , IR (HOMA 5 .6 ) and glucose intolerance was detected , along with high serum testosterone (2 .28 nmol /l ), androstenedione (4 .92 nmol /l ) and FSH (13 .4 mIU /ml ) levels . Estrogen replacement was ineffective to suppress gonadotropin and androgen levels , as well as IR . Under metformin therapy , she developed type 2 diabetes and acanthosis nigricans . GnRHa administration for 1 year resulted in marked decreases in gonadotropin and serum androgens , but severe IR persisted .Postnatal estrogen replacement and a marked decrease of endogenous androgens failed to improve IR and glucose tolerance . We propose that , in females , the increment of androgens and /or lack of estrogens during fetal life might alter the mechanism of fetal programming of insulin sensitivity .

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Diseases presenting "as well as the effects of estrogen" symptom

aromatase deficiency

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