Term Name: | aromatase excess syndrome |
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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. |
Ontology: | Human Disease [DOID:0090122] ( DOID:0090122 ) |