Conditions / Reproductive

aromatase excess syndrome

info · Reproductive · ICD-10: E30.1

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 aromata

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.

Signs and symptoms

  • Gynecomastia
  • Short stature
  • Accelerated skeletal maturation

Also known as: AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia; increased aromatase activity