aromatase excess syndrome

Term ID

DOID:0090122

Synonyms

• AEXS
• familial hyperestrogenism
• hereditary prepubertal gynecomastia
• increased aromatase activity

Definition

A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (2)

References

• GARD:12949
• ICD10CM:E30.1
• OMIM:139300
• ORDO:178345

Ontology

Human Disease   ( DOID:0090122 )