Follow-up of newborns with elevated screening T4 concentrations

To determine the type and incidence of hyperthyroxinemic disorders detected by follow-up of infants with elevated screening total T4 (TT4) values. Infants born in Oregon with a screening TT4 measurement >3 SD above the mean were offered enrollment. Serum TT4, free T4, total T3, free T3, and thyro...

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Bibliographic Details
Published in:The Journal of pediatrics 2003-09, Vol.143 (3), p.296-301
Main Authors: LaFranchi, Stephen H, Snyder, David B, Sesser, David E, Skeels, Michael R, Singh, Nalini, Brent, Gregory A, Nelson, Jerald C
Format: Article
Language:English
Subjects:
Biological and medical sciences
Female
Follow-Up Studies
General aspects
Humans
Hyperthyroxinemia - blood
Hyperthyroxinemia - epidemiology
Hyperthyroxinemia - therapy
Incidence
Infant
Infant, Newborn
Male
Medical sciences
Neonatal Screening
Outcome Assessment (Health Care)
Reproducibility of Results
Thyrotropin - blood
Thyroxine - blood
Time Factors
Triiodothyronine - blood
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Summary:To determine the type and incidence of hyperthyroxinemic disorders detected by follow-up of infants with elevated screening total T4 (TT4) values. Infants born in Oregon with a screening TT4 measurement >3 SD above the mean were offered enrollment. Serum TT4, free T4, total T3, free T3, and thyroid-stimulating hormone concentrations were measured in study infants and their mothers. Over a 20-month period, 101 infants (51 boys) and their mothers enrolled in the study (of 241 eligible infants), from a total screening population of 80,884; 17 infants were identified with persistent hyperthyroxinemia (TT4 >16 μg/dL). Ten had thyroxine-binding globulin excess (1:8088), 5 had evidence for increased T4 binding but not thyroxine-binding globulin excess (1:16,177), and 2 had findings compatible with thyroid hormone resistance (1:40,442); the other 84 infants had transient hyperthyroxinemia. Sequence analysis revealed a point mutation in the thyroid hormone receptor-β gene in one infant with thyroid hormone resistance; no mutation was identified in the other infant. Although neonatal Graves' disease occurs in approximately 1 in 25,000 newborn infants, we did not detect any case among 80,884 infants, most likely because their mothers were receiving antithyroid drugs. Although the other hyperthyroxinemic disorders in the aggregate occur frequently (1:4758) and may benefit from detection, in general they do not require treatment.
ISSN:0022-3476
1097-6833
DOI:10.1067/S0022-3476(03)00184-7