Guidelines Summary

Screening of Newborns

Congenital hypothyroidism is included in the RUSP (Recommended Uniform Screening Panel) list of disorders to be screened at birth recommended by the Department of Health and Human Services.^[83]The American Academy of Pediatrics (AAP) guidelines include an algorithm for screening and interpreting results.^[58]

The European Society for Paediatric Endocrinology (ESPE) guidelines recommend performing a second screening for the following infants^[59]:

Preterm, low-birth weight (LBW) and very low-birth weight (VLBW) neonates
Infants admitted to neonatal intensive care units (NICU)
Infants originally tested within the first 24 hours of life
Multiple births (particularly same-sex twins)

Treatment

The AAP, ESPE, and American Thyroid Association (ATA) guidelines all agree that levothyroxine replacement at a dose of 10–15 μg/kg/day should be initiated once newborn screening is positive. Additional key recommendations from ESPE include the following^[59]:

Levothyroxine treatment should be initiated as soon as possible and no later than 2 weeks after birth or immediately after confirmatory serum test results in infants with congenital hypothyroidism detected by a second screening test.
Infants with severe disease, as defined by a very low pretreatment TT4 or FT4 concentration, should be treated with the highest initial dose
L-T4 should be administered orally; if intravenous treatment is necessary, the dose should be no more than 80% of the oral dose, The dose should then be adjusted according to TSH and FT4 determinations.

Medication

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Media Gallery

Congenital Hypothyroidism. An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.
Congenital Hypothyroidism. Note the macroglossia.
Congenital Hypothyroidism. An infant shown a few months after starting thyroid hormone replacement.
Congenital Hypothyroidism. Infant a few months after starting thyroid hormone replacement.

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Author

Maala S Daniel, MBBS Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Sasigarn A Bowden, MD, FAAP Professor of Pediatrics, Section of Pediatric Endocrinology, Metabolism and Diabetes, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Endocrinology, Nationwide Children’s Hospital; Affiliate Faculty/Principal Investigator, Center for Clinical Translational Research, Research Institute at Nationwide Children’s Hospital

Sasigarn A Bowden, MD, FAAP is a member of the following medical societies: American Society for Bone and Mineral Research, Central Ohio Pediatric Society, Endocrine Society, International Society for Pediatric and Adolescent Diabetes, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent Diabetes

Disclosure: Nothing to disclose.