Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
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.
Maki
M
Fukami
Mami
M
Miyado
Keisuke
K
Nagasaki
Makio
M
Shozu
Tsutomu
T
Ogata
D058489:46, XX Disorders of Sex Development / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001141:Aromatase / Q000172:deficiency* / Q000235:genetics; D047072:Aromatase Inhibitors / Q000627:therapeutic use; D002648:Child; D002678:Chimera; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000172:deficiency; D015321:Gene Rearrangement / Q000235:genetics; D005838:Genotype; D007987:Gonadotropin-Releasing Hormone; D006177:Gynecomastia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010641:Phenotype; D011627:Puberty; D012333:RNA, Messenger / Q000235:genetics; D013739:Testosterone / Q000097:blood
D047072:Aromatase Inhibitors; D012333:RNA, Messenger; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D001141:Aromatase