21-hydroxylase deficiency (patient information)

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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

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 test: 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.

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

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