11β-hydroxylase deficiency (patient information)
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11β-hydroxylase Deficiency |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Mehrian Jafarizade, M.D [2]
Overview
11β-hydroxylase deficiency is the second most common type of congenital adrenal hyperplasia. Gene mutations are the cause of these diseases. Mutations in the CYP11B1 gene cause this disorder. CYP11B1 gene provides instructions for making an enzyme called steroid 11β-hydroxylase, which enables the adrenal glands to convert cholesterol into other steroid hormones. Patients with 11β-hydroxylase deficiency, the adrenal glands typically don't produce enough cortisol. Deficiency of 11β-hydroxylase can interfere with normal growth and development in children and adults. Usual signs and symptoms include girls' external appearance change, boys may have 3-4 years early virilizing characteristics than the normal. Serum and urinary hormone level can help the diagnosis. Steroid therapy and surgery to correct the appearance and function of the genitals are the main treatments. Many patients with 11β-hydroxylase deficiency can lead normal lives with proper treatment. Infants with untreated adrenal crisis may die within several weeks after birth.
What are the symptoms of 11β-hydroxylase deficiency?
Signs and symptoms of 11β-hydroxylase in children and adults:
Girls will usually have normal internal female reproductive organs as normal girls. But some of their external appearance may change. Boys won't have any obvious problems at birth. However, they may have 3-4 years early virilizing characteristics than normal boys.
- Irregular or absent menstruation in girls
- Ambiguous genitalia or virilizing characteristics in girls, often appearing more male than female: Deep voice, early appearance of pubic and armpit hair, excessive hair growth and facial hair
- Early appearance of masculine characteristics in boys: Deep voice, early appearance of pubic and armpit hair, enlarged penis, small testes, well-developed muscles
- Rapid growth during childhood, but shorter than average final height
- Infertility
- Low bone density
What causes 11β-hydroxylase deficiency?
Mutations in the CYP11B1 gene cause 11β-hydroxylase deficiency.
Who is at risk for 11β-hydroxylase deficiency?
Family history of 11β-hydroxylase deficiency is the risk factor for this disease.
Diagnosis
- Blood or urine levels of hormones or their metabolites: In patients with 11β-hydroxylase deficiency, doctors may see elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin.
- X-ray for bone age: This can be done in the department of radiation. It shows older bones than normal for the person's age.
- Gene detection: This may be the most accurate test for the diagnosis. In patients with 11β-hydroxylase deficiency, mutations of CYP11B1 gene can be detected.
When to seek urgent medical care?
- Contact your doctor if your child has signs and symptoms that seem to suggest 11β-hydroxylase deficiency.
- For the women who may carry the mutate gene, you need to talk with your doctor, obtain appropriate information about the condition and the risk of having an affected child, and to decide on whether to have children.
Treatment options
The goal of treatment is to return hormone levels to normal. The treatments include steroid therapy and surgery. Talk to you or your kid's doctor about side effects and your family's preferences.
- Determination the gender of a baby: When the baby with ambiguous genitalia born, the health care provider will determine the gender by checking the chromosomes.
- Steroid therapy: Dexamethasone or hydrocortisone every day. During times of stress, such as severe illness or surgery, they may need additional doses of medicine.
- Surgery: For female infants with virilizing characteristics, doctors recommend reconstructive surgery to correct the appearance and function of the genitals between 2 and 6 months of age.
Diseases with similar symptoms
Where to find medical care for 11β-hydroxylase deficiency?
Directions to Hospitals Treating 11β-hydroxylase deficiency
Prevention
Doctors often recommend genetic counseling for parents who have 11β-hydroxylase deficiency. Early diagnosis during pregnancy can minimize or even eliminate symptoms after birth.
What to expect (Outook/Prognosis)?
Prognosis of 11β-hydroxylase deficiency are usually good. But when adrenal crisis happens and is untreated, the patient may die within 1-6 weeks after birth.