Aromatase excess syndrome

Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients experience premature breast development.

Endocrine disease

CYP19A1 (gain of function) [HSA:1588] [KO:K07434]

PMID:21470988

Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

J Clin Endocrinol Metab 96:E1035-43 (2011)
DOI:10.1210/jc.2011-0145

PMID:17584767

Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Mendonca BB, Hanaki K, Kanzaki S, Rhoads DB, Misra M, Bulun SE

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

Hum Mol Genet 16:2529-41 (2007)
DOI:10.1093/hmg/ddm145

PMID:12736278

Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

N Engl J Med 348:1855-65 (2003)
DOI:10.1056/NEJMoa021559