Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis

@inproceedings{Shozu2014UnderstandingTP,
  title={Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis},
  author={Makio Shozu and Maki Fukami and Tsutomu Ogata},
  booktitle={Expert review of endocrinology & metabolism},
  year={2014}
}
CYP19A1 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… CONTINUE READING

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