Aromatase excess syndrome
Aromatase Excess Syndrome
Aromatase excess syndrome (pronounced: a-ro-ma-tase ex-cess syn-drome) is a rare genetic disorder characterized by an overproduction of the enzyme aromatase. This enzyme is responsible for converting androgens into estrogens, the primary female sex hormones.
Etymology
The term "aromatase" is derived from the process of aromatization, which refers to the conversion of androgens into estrogens. "Excess" refers to the overproduction of this enzyme, and "syndrome" is a term used to describe a group of symptoms that consistently occur together.
Symptoms
The symptoms of aromatase excess syndrome can vary greatly depending on the individual. However, common symptoms include gynecomastia, early onset of puberty, and in some cases, feminization of the male body.
Causes
Aromatase excess syndrome is caused by a genetic mutation in the CYP19A1 gene. This gene provides instructions for making the aromatase enzyme. When a mutation occurs, it can lead to an overproduction of this enzyme, resulting in the symptoms associated with this syndrome.
Diagnosis
Diagnosis of aromatase excess syndrome is typically made through a combination of clinical examination, patient history, and laboratory testing. Laboratory tests often include measuring the levels of estrogens and androgens in the blood.
Treatment
Treatment for aromatase excess syndrome typically involves hormone therapy to help balance the levels of androgens and estrogens in the body. In some cases, surgery may be required to remove excess breast tissue in males.
See Also
External links
- Medical encyclopedia article on Aromatase excess syndrome
- Wikipedia's article - Aromatase excess syndrome
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