Newborn Screening For Endocrine Disorders

Newborn screening (NBS) is a nationwide program to find babies born with certain health conditions, including Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasia (CAH). While diagnostic testing should be used to rule out or confirm a CH or CAH diagnosis, NBS can help you and your health care providers take immediate steps in order to keep your child as healthy as possible.

If your baby’s newborn screening result for primary congenital hypothyroidism (CH) was out of the normal range, your baby’s doctor will contact you to arrange for your baby to have additional testing that will involve testing baby’s blood. Individuals with CH are unable to make enough of a thyroid hormone, so a low level of thyroid hormone in the blood may indicate that your baby has CH. When the thyroid is not functioning properly, the body produces more of a chemical called thyroid-stimulating hormone in an attempt to get the body to produce more thyroid hormone. A high amount of thyroid stimulating hormone can be a sign of CH.

If your baby’s newborn screening result for congenital adrenal hyperplasia (CAH) was out of the normal range, your baby’s doctor will contact you to arrange for your baby to have additional testing that will involve checking your baby’s urine and blood samples for signs of CAH. Children with CAH have high levels of a chemical called 17-OHP in their blood because they are unable to turn this chemical into cortisol, a hormone produced in the adrenal glands. High amounts of 17-OHP in the blood might indicate that your baby has CAH. Further testing, which may include genetic testing, can determine which form of CAH your child has.

Because the harmful effects of untreated CH or untreated CAH can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether your baby has the condition.

If treatment starts soon after birth, children with primary congenital hypothyroidism (CH) or congenital adrenal hyperplasia (CAH) can have healthy growth and development. This is why newborn screening for CH and CAH is so important. Delayed treatment can put children at risk for intellectual disabilities, learning disabilities, developmental delays, and delayed growth.

If your baby is diagnosed with CH or CAH, treatment will need to continue throughout your child’s life. This may require regular check-ups to monitor thyroid hormone levels, growth, and development. Some children may still have trouble in school or delayed growth, even with treatment. Children who struggle in school may need extra help or an early intervention program to prepare them for school.

Visit the following websites for more information:


NBS Endocrinology Consultant
Alexandra Aguilar, MD
UNLV Pediatric Center
1524 Pinto Lane 2nd Floor
Las Vegas, NV 89106
Phone: (702) 944-2828
Fax: (702) 992-6860