Aromatase excess syndrome, abbreviated AES or AEXS, is a rarely diagnosed genetic and endocrine disorder in which the enzyme aromatase is overexpressed, converting an excess of androgens into estrogens and producing symptoms of hyperestrogenism. It affects the sexes differently: in males it causes marked to complete phenotypical feminization, with the notable exception of the genitalia, which do not become ambiguous, while in females it produces hyperfeminization. It is also known as hereditary prepubertal gynecomastia, and falls under endocrinology, carrying ICD-11 code 5A92 and ICD-10 code E30.1. The condition is extremely rare: medical literature reviews have documented only about 30 affected males across 15 families and 8 affected females across 7 families. It results from disruption of the normal balance between androgens and estrogens, as the aromatase enzyme, which normally converts androgens to estrogens at a controlled rate, becomes pathologically overactive and drives secondary sexual development inconsistent with the person's biological sex.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. MedlinePlus Genetics, National Library of Medicine: Aromatase excess syndrome
MedlinePlus Genetics, National Library of MedicineDescription: hormone levelsQuote, Description: hormone levels
Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females.
2. Aromatase excess syndrome (Wikipedia)
lead sentence 1
Aromatase excess syndrome (AES or AEXS) is a rarely diagnosed genetic and endocrine syndrome which is characterized by an overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism.
Lead: disease category
Aromatase excess syndrome (AES or AEXS) is a rarely diagnosed genetic and endocrine syndrome which is characterized by an overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism.
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