Tests and diagnosis

By Mayo Clinic Staff

Tests to diagnose congenital adrenal hyperplasia include:

  • Physical exam. Your child's doctor will examine your child and evaluate symptoms. If, based on these findings, the doctor suspects congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine tests.
  • Blood and urine tests. Tests used to diagnose congenital adrenal hyperplasia measure levels of hormones manufactured by the adrenal glands — cortisol, aldosterone and androgens. A diagnosis can be made when there are abnormal levels of these hormones.

Doctors are required to conduct hormonal tests for congenital adrenal hyperplasia in newborns during the first few days of life. Blood is drawn with a heel prick of the newborn and analyzed.

Prenatal testing

Doctors have the tools to screen and diagnose congenital adrenal hyperplasia in fetuses. These tools are used most often when siblings have the disease or family members are known to carry the gene defect.

If you are pregnant and have the condition or a family history of the condition, your doctor may recommend one of the following tests:

  • Amniocentesis. This procedure uses a needle to withdraw a sample of cells from the amniotic fluid in the womb and determine in the laboratory whether the condition is present.
  • Chorionic villus sampling. This test involves withdrawing cells from the placenta for analysis in the laboratory.

If the condition is diagnosed before birth, treatment can be started in the womb. Prenatal diagnosis and therapy may be able to reduce the risk of complications.

Testing to determine a child's sex

After birth, your child may have ambiguous external genitalia, so you may not be sure of your child’s sex. In that case, genetic blood tests can analyze chromosomes — in a test called karyotyping — to determine the sex of your child.

In addition, a pelvic ultrasound can be used to produce images of female reproductive structures — the cervix, uterus and fallopian tubes — to confirm whether your child is a girl.

Jan. 20, 2017