Shozu Makio, Fukami Maki, Ogata Tsutomu
Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba City 260-8670, Japan.
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.
Expert Rev Endocrinol Metab. 2014 Jul;9(4):397-409. doi: 10.1586/17446651.2014.926810.
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 (). Subchromosomal recombination events including duplication, deletion, and inversion has been identified. The latter two recombinations recruit novel promoters for 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 mutations is mandatory to confirm aromatase excess syndrome diagnosis. Furthermore, the use of an aromatase inhibitor can ameliorate gynecomastia.
芳香化酶过剩综合征的特征是由于芳香化酶基因功能获得性突变导致雌激素过多，在青春期前或青春期出现男性乳腺增生。已发现包括重复、缺失和倒位在内的亚染色体重组事件。后两种重组通过独特机制为芳香化酶招募新的启动子。男性乳腺增生会持续终生，尽管一般状况良好，但可能会引发心理问题。轻微症状（骨龄提前和成年身高矮小程度不一）若存在，完全是由雌激素过多所致。48%的受影响男性血清雌二醇水平升高，但这不一定有助于诊断。对芳香化酶突变进行分子分析对于确诊芳香化酶过剩综合征必不可少。此外，使用芳香化酶抑制剂可改善男性乳腺增生。
