Article
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
Pediatric endocrinology reviews : PER - 1 Mar 2014
Fukami Maki, Miyado Mami, Nagasaki Keisuke, Shozu Makio, Ogata Tsutomu
Abstract excerpt
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...
Topics
- 46, XX Disorders of Sex Development
- Adolescent
- Adult
- Aromatase
- Aromatase Inhibitors
- Child
- Chimera
- Estradiol
- Female
- Follicle Stimulating Hormone
- Gene Rearrangement