Fukami Maki, Miyado Mami, Nagasaki Keisuke, Shozu Makio, Ogata Tsutomu
Pediatr Endocrinol Rev. 2014 Mar;11(3):298-305.
Overexpression of CYP19A1 encoding aromatase results in a rare genetic disorder referred to as aromatase excess syndrome (AEXS). Male patients with AEXS manifest pre- or peri-pubertal onset gynecomastia, gonadotropin deficiency, and advanced bone age, while female patients are mostly asymptomatic. To date, 30 male patients with molecularly confirmed AEXS have been reported. A total of 12 types of submicroscopic rearrangements, i.e., two simple duplications, four simple deletions, two simple inversions, and four complex rearrangements, have been implicated in AEXS. Clinical severity of AEXS primarily depends on the types of the rearrangements. AEXS appears to account for a small number of cases of pre- or peri-pubertal onset gynecomastia, and should be suspected particularly when gynecomastia is associated with an autosomal dominant inheritance pattern, characteristic hormone abnormalities and/or advanced bone age. Treatment with an aromatase inhibitor appears to benefit patients with AEXS, although long-term safety of this class of drugs remains unknown.
编码芳香化酶的CYP19A1过表达会导致一种罕见的遗传性疾病，称为芳香化酶过剩综合征（AEXS）。患有AEXS的男性患者在青春期前或青春期前后出现男性乳房发育、促性腺激素缺乏和骨龄提前，而女性患者大多无症状。迄今为止，已报道了30例经分子确诊的AEXS男性患者。共有12种亚微观重排，即2种简单重复、4种简单缺失、2种简单倒位和4种复杂重排，与AEXS有关。AEXS的临床严重程度主要取决于重排的类型。AEXS似乎占青春期前或青春期前后男性乳房发育病例的一小部分，特别是当男性乳房发育与常染色体显性遗传模式、特征性激素异常和/或骨龄提前相关时，应怀疑患有AEXS。尽管这类药物的长期安全性尚不清楚，但使用芳香化酶抑制剂治疗似乎对AEXS患者有益。
