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10.1586/17446651.2014.926810

http://scihub22266oqcxt.onion/10.1586/17446651.2014.926810
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25264451!4162655!25264451
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suck abstract from ncbi

pmid25264451      Expert+Rev+Endocrinol+Metab 2014 ; 9 (4): 397-409
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  • Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis #MMPMID25264451
  • Shozu M; Fukami M; Ogata T
  • Expert Rev Endocrinol Metab 2014[Jul]; 9 (4): 397-409 PMID25264451show ga
  • Aromatase excess syndrome is characterized by pre- or peripubertal onset of gynecomastia due to estrogen excess because of a gain-of-function mutation in the aromatase gene (CYP19A1). Subchromosomal recombination events including duplication, deletion, and inversion has been identified. The latter two recombinations recruit novel promoters for CYP19A1 through a unique mechanism. Gynecomastia continues for life, and although the general condition is well preserved, it may cause psychological issues. Minor symptoms (variably advanced bone age and short adult height), if present, are exclusively because of estrogen excess. Serum estradiol levels are elevated in 48% of affected males, but are not necessarily useful for diagnosis. Molecular analysis of CYP19A1 mutations is mandatory to confirm aromatase excess syndrome diagnosis. Furthermore, the use of an aromatase inhibitor can ameliorate gynecomastia.
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