/aromatase excess syndrome

aromatase excess syndrome

Rare Disease

MONDO:0007690

Also Known As

AEXSaromatase excess syndromefamilial hyperestrogenismgynecomastia, familial, due to increased aromatase activitygynecomastia, hereditaryhereditary prepubertal gynecomastiaincreased aromatase activityaromatase activity, increased

Definition

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.