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20 yo female complains of never having periods. physical exam shows small breasts and clitomegaly. FSH and LH increased, absent estrone and estradiol. karyotyping shows xx, and pelvic US - ovaries with multiple cysts. The mother of the patient remembers that while pregnant with this child she had increased facial hair, problem that resolved after delivery. What is the most likely diagnosis?
1. subreptitious ingestion of testosteron
2. aromatase deficiency
3. McCune Albright sd
4. hypothalamic tumor
5. pituitary tumor
6. 21 hydroxilase deficiency
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in 21 def the estrogens are still synthesized. she doesn't have any.
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2- Aromatase deficiency -
This syndrome is due to a mutation of gene CYP19 and inherited in an autosomal recessive way.
Accumulations of androgens during pregnancy may lead to virilization of a female at birth (males are not affected).
Females will have primary amenorrhea.
Individuals of both sexes will be tall as lack of estrogen does not bring the epiphyseal lines to closure.
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then 111 ???( but fsh and lh shud be low in that scenario i suppose)...
tough one liana...
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yes!!! aromatase deficiency. that's why the mom had facial hair prb that dissapeared after delivery. the placenta that should have produced estrogens couldn't go further than testosteron, that created temporarly virilization in mom.
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adding more,
Aromatase converts “
Testosterone/androgen ---ïƒ estradiol/estrone
In ovarian follicle,
Androgen is converted to estradiol by aromatase under the stimulation of FSH.
When there is aromatase def, andeogen doesn™t convert to estrogen, acculate that is the reason of cysts and the same time due to def of estrogen, FSH (also LH) are secretated from pituitary, so we get increased level of both hormones.
clinical use
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aromatase inhibitor as example anastrozol and letrozol use for estrogen sensitive tumor (breast and ovarian tumour), also use in McCune Albright synd
