Screening for Congenital Adrenal Hyperplasia

All newborns in the United States are screened for congenital adrenal hyperplasia, a condition involving abnormal levels of certain hormones produced by the adrenal glands. These hormones, including cortisol, aldosterone, and male sex hormones called androgens, help regulate growth, blood sugar, and blood pressure.

Screening for congenital adrenal hyperplasia occurs when your baby is between two and four days old. A doctor or nurse pricks your newborn’s heel, then places a few drops of blood on a card that is sent to a laboratory at the New York State Department of Health.

The laboratory measures the amount of 17-hydroxyprogesterone—a hormone known as 17-OHP that’s converted to cortisol with the help of an enzyme called 21-hydroxylase. A high amount of 17-OHP may mean your baby does not produce enough 21-hydroxylase and has congenital adrenal hyperplasia.

Doctors at Hassenfeld Children’s Hospital at NYU Langone use the results of this screening test to identify babies who may be at risk for the salt-wasting form of classic congenital adrenal hyperplasia, the most common type. In this condition, children have low levels of both cortisol and aldosterone, which can lead to a life-threatening drop in blood pressure and an increase in the production of androgens.

Information from the screening test also helps doctors make a diagnosis in girls who are born with ambiguous genitals, which may result from excess androgen production. Doctors perform additional tests to diagnose the condition and determine which treatment, if any, may be needed.