Aromatase excess syndrome

Definition:

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.

References:

[1]. Maki Fukami, et al. 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. 2011 Jun;96(6):E1035-43. [Content Brief]

[2]. Makio Shozu, et al. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. N Engl J Med. 2003 May 8;348(19):1855-65. [Content Brief]

[3]. Masashi Demura, et al. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. Hum Mol Genet. 2007 Nov 1;16(21):2529-41. [Content Brief]

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