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Summary
AROMATASE DEFICIENCY
AROMATASE GYNECOMASTIA DUE TO INCREASED AROMATASE ACTIVITY
613546
OMIM = Online Medalian Inheritance of Men
91
15q21.2
  • estradiol, transdermal
rare
autosomal recessive
mutation in the CYP19A1 gene
increased aromatase activity ->gynecomastia -decreased aromatase acitivity -> aromatase deficiency syndrome aromatase enzyme complex catalyzes the conversion of androgens to estrogen (ovary, testis, placenta, brain, adipose tissue)
symptoms
acne
amenorrhea
genitalia, ambigous
gynecomastia
obesity
polycystic ovaries
sexual infantilism
tall stature
virilisation
laboratory finding
Estradiol decreasedplasma
Testosterone increasedplasma
Androstenedione increasedplasma
Luteinizing hormone (LH) increasedplasma
Follicle stimulating hormone (FSH) increasedplasma
Literature
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