Ontology highlight
ABSTRACT:
SUBMITTER: Fukami M
PROVIDER: S-EPMC3272822 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Fukami Maki M Shozu Makio M Ogata Tsutomu T
International journal of endocrinology 20120126
Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. This condition is caused by overexpression of CYP19A1 encoding aromatase, and three types of cryptic genomic rearrangement around CYP19A1, that is, duplications, deletions, and inversions, have been identified in AEXS. Duplications appear to have caused CYP19A1 overexpression because of an increased number of physiological promoters, whereas deletions and inversions would have induced wide CYP19 ...[more]