Published online June 1, 2006
PEDIATRICS Vol. 117 No. 6 June 2006, pp. 2290-2303 (doi:10.1542/peds.2006-0915)
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Right arrow Premature & Newborn

CLINICAL REPORT

Update of Newborn Screening and Therapy for Congenital Hypothyroidism

American Academy of Pediatrics, Susan R. Rose, MD and the Section on Endocrinology and Committee on Genetics, American Thyroid Association, Rosalind S. Brown, MD and the Public Health Committee, Lawson Wilkins Pediatric Endocrine Society

Unrecognized congenital hypothyroidism leads to mental retardation. Newborn screening and thyroid therapy started within 2 weeks of age can normalize cognitive development. The primary thyroid-stimulating hormone screening has become standard in many parts of the world. However, newborn thyroid screening is not yet universal in some countries. Initial dosage of 10 to 15 µg/kg levothyroxine is recommended. The goals of thyroid hormone therapy should be to maintain frequent evaluations of total thyroxine or free thyroxine in the upper half of the reference range during the first 3 years of life and to normalize the serum thyroid-stimulating hormone concentration to ensure optimal thyroid hormone dosage and compliance.

Improvements in screening and therapy have led to improved developmental outcomes in adults with congenital hypothyroidism who are now in their 20s and 30s. Thyroid hormone regimens used today are more aggressive in targeting early correction of thyroid-stimulating hormone than were those used 20 or even 10 years ago. Thus, newborn infants with congenital hypothyroidism today may have an even better intellectual and neurologic prognosis. Efforts are ongoing to establish the optimal therapy that leads to maximum potential for normal development for infants with congenital hypothyroidism.

Remaining controversy centers on infants whose abnormality in neonatal thyroid function is transient or mild and on optimal care of very low birth weight or preterm infants. Of note, thyroid-stimulating hormone is not elevated in central hypothyroidism. An algorithm is proposed for diagnosis and management.

Physicians must not relinquish their clinical judgment and experience in the face of normal newborn thyroid test results. Hypothyroidism can be acquired after the newborn screening. When clinical symptoms and signs suggest hypothyroidism, regardless of newborn screening results, serum free thyroxine and thyroid-stimulating hormone determinations should be performed.

Key Words: congenital hypothyroidism • thyroid hormone • thyroid-stimulating hormone • newborn screening

Abbreviations: CH—congenital hypothyroidism • TH—thyroid hormone • T4—thyroxine • T3—triiodothyronine • TSH-R—thyrotropin receptor • TRBAb—thyrotropin receptor-blocking antibody • FT4—free thyroxine • TSH—thyroid-stimulating hormone • TBG—thyroid-binding globulin • LBW—low birth weight • VLBW—very low birth weight • L-T4—levothyroxine • TRH—thyrotropin-releasing hormone


The following policy statement has been revised:

Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines

Pediatrics 91: 1203-1209.



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