21-hydroxylase deficiency (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD

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How do I know if I have congenital adrenal hyperplasia due to 21-hydroxylase deficiency and what are the symptoms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

Signs and symptoms in infants: In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt.

• Dehydration and weight loss
• Vomiting
• Cardiac arrhythmias
• Electrolyte changes

Signs and symptoms of adrenal hyperplasia 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 2~3 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

Who is at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

Mutations in the CYP21A2 gene cause congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

How to know you have congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

• Blood or urine levels of hormones or their metabolites: In patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, doctors may see abnormal serum electrolytes and urine electrolytes, high levels of 17-OH progesterone, high levels of serum DHEA sulfate, high levels of urinary 17-ketosteroids, low levels of aldosterone and cortisol, normal or low urinary 17-hydroxycorticosteroids.
• 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 congenital adrenal hyperplasia due to 21-hydroxylase deficiency, mutations of CYP21A2 gene can be detected.

When to seek urgent medical care?

Contact your doctor if your child has signs and symptoms that seem to suggest congenital adrenal hyperplasia due to 21-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 treatment is steroid therapy. 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.
• Medicines: Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency nedd to add a form of cortisol, such as dexamethasone, fludrocortisone, or hydrocortisone every day. During times of stress, such as severe illness or surgery, they may need additional doses of medicine.

Where to find medical care for congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

Directions to Hospitals Treating congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Prevention of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency are usually good. But when adrenal crisis happens and is untreated, the patient may die within 1 - 6 weeks after birth.

Copyleft Sources

http://www.mayoclinic.com/print/congenital-adrenal-hyperplasia/DS00915/METHOD=print&DSECTION=all

http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency

http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

http://www.magicfoundation.org/www/docs/100/congenital_adrenal_hyperplasia.html