Defective CYP19A1 causes Aromatase excess syndrome (AEXS)

Stable Identifier
R-HSA-5579030
Type
Pathway
Species
Homo sapiens
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Aromatase (CYP19A1) catalyses the conversion of androstenedione (ANDST) to estrone (E1). Defects in CYP19A1 can cause aromatase excess syndrome (AEXS; MIM:139300) and aromatase deficiency (AROD; MIM:613546). Affected individuals cannot synthesise endogenous estrogens. In females the lack of estrogen leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal (Bulun 2014).

Literature References
PubMed ID Title Journal Year
24485503 Aromatase and estrogen receptor ? deficiency

Bulun, SE

Fertil. Steril. 2014
Participants
Participant Of
Disease
Name Identifier Synonyms
pseudohermaphroditism 3765 Indeterminate sex and pseudohermaphroditism, Indeterminate sex and pseudohermaphroditism (disorder), Pseudohermaphroditism (disorder), pseudohermaphroditism, Indeterminate sex or pseudohermaphroditism NOS (disorder)
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