Aromatase and estrogen receptor Î± deficiency.

[aromatase deficiency]

Studies on the phenotypes of women and men with mutations disrupting estrogen biosynthesis and action have significantly advanced our knowledge of the physiologic roles of estrogen in humans . Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP 19 A 1 gene . It gives rise to ambiguous genitalia in 46 ,XX fetuses . At puberty , affected girls have hypergonadotropic hypogonadism , do not develop secondary sexual characteristics , and exhibit progressive virilization . The affected 46 ,XY men have normal male sexual differentiation and pubertal maturation . These men , however , are extremely tall and have eunucoid proportions with continued linear growth into adulthood , severely delayed epiphyseal closure , and osteoporosis due to estrogen deficiency . Although estrogen has been shown to be essential for normal sperm production and function in mice , its role in fertility is not clear in men . Thus far , one man and an unrelated woman with estrogen resistance due to mutations in the estrogen receptor Î± (ESR 1 ) gene have been described . Their clinical presentations are similar to that of aromatase-deficient men and women .

Diseases
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Diseases presenting "function in mice" symptom

aromatase deficiency

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