Seminars in reproductive medicine
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Semin. Reprod. Med. · Jan 2000
ReviewAromatase deficiency and estrogen resistance: from molecular genetics to clinic.
Our knowledge of the physiologic roles of estrogen in women and men has been advanced by recent descriptions of mutations disrupting estrogen biosynthesis and action. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19 gene. It gives rise to ambiguous genitalia in 46,XX individuals. ⋯ Although estrogen was shown to be essential for normal sperm production and function in mice, its role in fertility is not clear in men. Thus far, one estrogen-resistant human, a man with a mutant estrogen receptor-alpha gene, has been described. His clinical presentation was similar to that of aromatase-deficient men.