About Aromatase excess syndrome

What is Aromatase excess syndrome?

Aromatase excess syndrome is a rare genetic disorder caused by a mutation in the CYP19A1 gene. This gene encodes the enzyme aromatase, which is responsible for the production of the hormone estrogen. People with this disorder have an excess of estrogen in their bodies, which can lead to a variety of symptoms, including early puberty, infertility, and an increased risk of certain types of cancer.

What are the symptoms of Aromatase excess syndrome?

The symptoms of Aromatase Excess Syndrome (AES) vary depending on the individual, but may include:

-Early onset of puberty in girls
-Excess body hair growth (hirsutism)
-Acne
-Obesity
-Enlarged ovaries
-Irregular menstrual cycles
-Infertility
-High blood pressure
-High cholesterol
-Elevated liver enzymes
-Enlarged heart
-Enlarged hands and feet
-Joint pain
-Headaches
-Fatigue
-Depression
-Anxiety

What are the causes of Aromatase excess syndrome?

Aromatase excess syndrome is caused by a genetic mutation in the CYP19A1 gene, which is responsible for producing the enzyme aromatase. This mutation causes the body to produce too much aromatase, leading to an excess of estrogen in the body. This can cause a variety of symptoms, including early puberty, infertility, and obesity.

What are the treatments for Aromatase excess syndrome?

1. Medications: Aromatase inhibitors, such as anastrozole, letrozole, and exemestane, are the primary medications used to treat Aromatase excess syndrome. These medications work by blocking the enzyme aromatase, which is responsible for producing estrogen in the body.

2. Surgery: In some cases, surgery may be recommended to remove the ovaries or testes, which are the primary sources of aromatase in the body.

3. Hormone replacement therapy: Hormone replacement therapy may be recommended to replace the hormones that are no longer being produced by the ovaries or testes.

4. Diet and lifestyle changes: Making changes to your diet and lifestyle can help reduce the symptoms of Aromatase excess syndrome. Eating a balanced diet, exercising regularly,

What are the risk factors for Aromatase excess syndrome?

1. Genetic mutations in the CYP19A1 gene, which is responsible for producing the aromatase enzyme.

2. Exposure to environmental toxins, such as pesticides, that can disrupt the normal functioning of the CYP19A1 gene.

3. Excessive intake of alcohol or other substances that can interfere with the normal functioning of the CYP19A1 gene.

4. Certain medications, such as steroids, that can increase the activity of the CYP19A1 gene.

5. Obesity, which can increase the activity of the CYP19A1 gene.

6. Certain medical conditions, such as polycystic ovary syndrome, that can increase the activity of the CYP19A1 gene.

Is there a cure/medications for Aromatase excess syndrome?

At this time, there is no known cure for Aromatase Excess Syndrome. However, there are medications available to help manage the symptoms. These medications include aromatase inhibitors, such as letrozole, anastrozole, and exemestane, which can help reduce the amount of estrogen in the body. Other medications, such as growth hormone, can also be used to help manage the symptoms. Additionally, lifestyle changes, such as a healthy diet and regular exercise, can help to reduce the symptoms of Aromatase Excess Syndrome.