About Aromatase deficiency

What is Aromatase deficiency?

Aromatase deficiency is a rare genetic disorder caused by a mutation in the CYP19A1 gene. This gene is responsible for producing the enzyme aromatase, which is responsible for converting androgens (male hormones) into estrogens (female hormones). People with aromatase deficiency have low levels of estrogen, which can lead to a variety of physical and psychological symptoms. Symptoms may include delayed or incomplete puberty, infertility, and an increased risk of certain cancers. Treatment typically involves hormone replacement therapy.

What are the symptoms of Aromatase deficiency?

Symptoms of Aromatase deficiency can vary depending on the severity of the deficiency, but may include:

-Delayed or incomplete sexual development
-Infertility
-Reduced muscle mass
-Reduced bone density
-Increased body fat
-Gynecomastia (enlarged breasts in males)
-Hot flashes
-Mood swings
-Fatigue
-Headaches
-Depression
-Loss of libido
-Loss of body hair
-Loss of body odor

What are the causes of Aromatase deficiency?

Aromatase deficiency is caused by mutations in the CYP19A1 gene, which provides instructions for making the aromatase enzyme. This gene mutation can be inherited from a person's parents or can occur spontaneously.

What are the treatments for Aromatase deficiency?

1. Hormone replacement therapy: This involves taking estrogen and progesterone to replace the hormones that are not being produced by the body.

2. Dietary changes: Eating a diet that is low in fat and high in fiber can help to reduce the symptoms of Aromatase deficiency.

3. Supplements: Taking supplements such as vitamin D, zinc, and omega-3 fatty acids can help to reduce the symptoms of Aromatase deficiency.

4. Exercise: Regular exercise can help to reduce the symptoms of Aromatase deficiency.

5. Stress management: Stress can worsen the symptoms of Aromatase deficiency, so it is important to manage stress levels.

6. Medications: Certain medications, such as aromatase inhibitors, can help to reduce the symptoms of Aromatase deficiency

What are the risk factors for Aromatase deficiency?

1. Genetic mutations: Aromatase deficiency is caused by mutations in the CYP19A1 gene, which provides instructions for making the aromatase enzyme.

2. Family history: Aromatase deficiency can be inherited from a parent who carries a mutated CYP19A1 gene.

3. Age: Aromatase deficiency is more common in older individuals.

4. Gender: Aromatase deficiency is more common in females than males.

5. Ethnicity: Aromatase deficiency is more common in certain ethnic groups, such as African Americans and Hispanics.

Is there a cure/medications for Aromatase deficiency?

There is currently no cure for Aromatase deficiency. However, hormone replacement therapy (HRT) is the main treatment for this condition. HRT involves taking estrogen and progesterone to replace the hormones that are not being produced by the body. Additionally, medications such as anastrozole and letrozole may be prescribed to reduce the amount of testosterone in the body.