About Hyperandrogenism due to cortisone reductase deficiency

What is Hyperandrogenism due to cortisone reductase deficiency?

Hyperandrogenism due to cortisone reductase deficiency is a rare genetic disorder that affects the body's ability to produce cortisol, a hormone that helps regulate metabolism, stress, and inflammation. People with this disorder have higher than normal levels of androgens, which are male hormones, in their bodies. Symptoms of this disorder can include acne, hirsutism (excessive hair growth), irregular menstrual cycles, and infertility. Treatment typically involves hormone replacement therapy and lifestyle modifications.

What are the symptoms of Hyperandrogenism due to cortisone reductase deficiency?

The symptoms of Hyperandrogenism due to cortisone reductase deficiency include:

-Excess facial and body hair growth (hirsutism)
-Acne
-Oily skin
-Male-pattern baldness
-Irregular or absent menstrual periods
-Infertility
-Weight gain
-Enlarged clitoris
-Deepening of the voice
-Increased muscle mass
-Fatigue
-Mood swings
-Insomnia

What are the causes of Hyperandrogenism due to cortisone reductase deficiency?

1. Genetic mutations in the CYP11A1 gene, which is responsible for the production of the enzyme cortisone reductase.

2. Mutations in the HSD3B2 gene, which is responsible for the production of the enzyme 3-beta-hydroxysteroid dehydrogenase.

3. Mutations in the CYP17A1 gene, which is responsible for the production of the enzyme 17-alpha-hydroxylase.

4. Mutations in the STAR gene, which is responsible for the production of the enzyme steroidogenic acute regulatory protein.

5. Mutations in the HSD17B3 gene, which is responsible for the production of the enzyme 17-beta-hydroxysteroid dehydrogenase.

6. Mutations in the CYP19A1 gene

What are the treatments for Hyperandrogenism due to cortisone reductase deficiency?

1. Hormonal therapy: This includes the use of medications such as oral contraceptives, anti-androgens, and gonadotropin-releasing hormone agonists to reduce androgen levels.

2. Surgery: Surgery may be recommended to remove the ovaries or adrenal glands if they are producing too much androgen.

3. Diet and lifestyle changes: Eating a healthy diet and exercising regularly can help reduce androgen levels.

4. Stress management: Stress can increase androgen levels, so managing stress levels can help reduce androgen levels.

5. Supplements: Certain supplements, such as saw palmetto, may help reduce androgen levels.

What are the risk factors for Hyperandrogenism due to cortisone reductase deficiency?

1. Family history of Hyperandrogenism due to cortisone reductase deficiency
2. Female gender
3. Age of onset before puberty
4. Obesity
5. Polycystic ovary syndrome
6. High levels of androgens in the blood
7. Abnormal menstrual cycles
8. Acne
9. Excess body hair
10. Male-pattern baldness

Is there a cure/medications for Hyperandrogenism due to cortisone reductase deficiency?

At this time, there is no known cure for hyperandrogenism due to cortisone reductase deficiency. However, there are medications that can help manage the symptoms. These include anti-androgens, such as spironolactone, which can help reduce the production of androgens, and oral contraceptives, which can help regulate the menstrual cycle. Additionally, lifestyle modifications, such as reducing stress and maintaining a healthy diet, can help reduce symptoms.