Stratakis et al described a hereditary defect in the P450 aromatase gene that was associated with high levels of estrogens and feminization in both males and females.
Inheritance: autosomal dominant
Enzyme affected: aromatase (estrogen synthetase, from the P450 arom gene)
Features in males:
(1) heterosexual precocious puberty (starting soon after adrenarche)
(2) prepubertal or peripubertal gynecomastia
Features in females:
(1) precocious puberty
(2) macromastia
Laboratory findings:
(1) elevated serum levels of estrogens
(2) low normal or decreased serum levels of androgens
(3) 24 hour HCG stimulation test shows elevation of testosterone and estrone
(4) low serum DHEA-S levels during puberty, with decrease during ACTH stimulation test
(5) elevated aromatase activity in cultured skin fibroblasts or EBV-transformed lymphocytes
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