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Newborn Screening Program

endo_support_team.jpgThe Children's of Alabama Pediatric Endocrine Department is a proud partner of the Alabama Department of Public Health's Alabama Newborn Screening Program. We currently specialize in the follow-up of infants who are diagnosed with Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. Our efforts include working with community pediatrician to identify children with these disorders rapidly,m seeing patients in an expedited manner so that we may start treatment and therapy early, and long-tern maintenance of chronic conditions. We also currently maintain a research database of screening information to help us improve our diagnostic efforts and expedite treatment for future children diagnosed with these illnesses. We are constantly striving to improve our processes and work very closely with pediatrician throughout Alabama, Mississippi, Tennessee, Georgia, and Florida to make sure that these children are treated appropriately and early.

All newborns in Alabama are screened for a variety of disorders wherein early detection and treatment can dramatically reduce morbidity, premature death, mental retardation and other developmental disabilities. Overall, 38 different disorders are screened for, including two common endocrine conditions, namely, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH).

Congenital Hypothyroidism occurs in approximately 1 in 4,000 infants. It is caused by abnormal thyroid gland development or function. Because thyroid hormone is essential for normal growth and brain development, CH must be diagnosed and treated as soon as possible after birth. Fortunately, with early intervention, CH can be easily treated with oral doses of thyroid hormone.

Congenital Adrenal Hyperplasia occurs in approximately 1 in 16,000 infants in the United States. CAH includes a set of inherited disorders that result from defects in the formation of adrenal gland hormones. CAH sometimes causes masculinization of the genitals. Severe forms of CAH can cause life-threatening salt loss or cardiac arrest. Treatment includes hormone and salt replacement.

The Pediatric Endocrine Center at Children's Hospital works in close collaboration with the Alabama Department of Health Newborn Screening Division and private practitioners to provide rapid and accurate diagnosis of abnormal newborn screening results. We provide comprehensive emergent and long-term follow up care to affected infants and their families.

If you have any questions or concerns regarding your child's condition or treatment, please contact our Newborn Screening Program coordinator at 205-638-6442 or 205-638-9107.

Our Team

Team Members:
Dr. Leen Matalka
Dr. Gail Mick
Sarah Sparks, CRNP

Useful Resources

Alabama Department of Public Health's Newborn Screening

Congenital Hypothyroidism

Magic Foundation - Thyroid Disorders
Congenital Hypothyroidism: "Parents Guide"

Congenital Adrenal Hyperplasia

Cares Foundation
National Adrenal Disease Foundation (NADF) and MedHelp
Magic Foundation