Aromatase excess syndrome

Orpha code: 178345OMIM code: 139300

Definition

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.

Disease data
Classification

Disease

Synonyms
AEXS
AEXS
Dziedziczna ginekomastia przed pokwitaniem
Rodzinny hiperestrogenizm
Familial hyperestrogenism
Hereditary prepubertal gynecomastia
ORPHA code
178345
OMIM code
139300
ICD10 code
E30.1
ICD11 code
5A92

No additional description.

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