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Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.
Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Symptoms
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:
- Abnormal menstrual periods
- Deep voice
- Early appearance of pubic and armpit hair
- Excessive hair growth and facial hair
- Failure to menstruate
- Genitals that look both male and female (ambiguous genitalia), often appearing more male than female
Boys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2 - 3 years of age. Changes may include:
- Deep voice
- Early appearance of pubic and armpit hair
- Early development of male characteristics
- Enlarged penis
- Small testes
- Well-developed muscles
Both boys and girls will be tall as children but much shorter than normal as adults.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:
Investigations
Genetic tests can help diagnose, confirm, and manage the disease but not necessarily require all the time.
- Since CAH is an autosomal recessive disorder it has a recurrence risk of 25% in the family having one affected child. Prenatal diagnosis can be carried out by identifying disease causing mutation in 21-hydroxylase gene which is the diagnostic test. Though direct study of amniotic fluid at midtrimester of pregnancy for 17-hydroxyprogesterone can also be used as a prenatal diagnostic test with nearly 5% chances or technical error.
Treatment
The goal of treatment is to return hormone levels to normal. This is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone) every day. People may need additional doses of medicine during times of stress, such as severe illness or surgery.
The health care provider will determine the gender of a baby with ambiguous genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals will usually have surgery between ages 1 month - 3 months to correct the abnormal appearance.
Parents of children with congenital adrenal hyperplasia should be aware of the side effects of steroid therapy. Report signs of infection and stress to your health care provider because the child may need more medication. Steroid medications cannot be stopped suddenly, because it may lead to adrenal insufficiency.
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