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Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):175-87. doi: 10.1016/j.beem.2013.05.008. Epub 2013 Jun 18.

Screening for congenital hypothyroidism: a worldwide view of strategies.

Author information

1
Department of Pediatrics [CDRCP], Doernbecher Children's Hospital, Oregon Health & Science University, 707 SW Gaines St., Portland, OR 97239-3098, USA. Electronic address: fordg@ohsu.edu.
2
Department of Pediatrics [CDRCP], Doernbecher Children's Hospital, Oregon Health & Science University, 707 SW Gaines St., Portland, OR 97239-3098, USA. Electronic address: lafrancs@ohsu.edu.

Abstract

Detection by newborn screening (NBS) and treatment of babies with congenital hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder. Lowering of the screening TSH cutoff and changes in birth demographics have been associated with an approximate doubling of the incidence of CH, from 1:3500 to 1:1714. The additional cases detected by lowering of the TSH cutoff tend to have milder hypothyroidism, with imaging often demonstrating a eutopic, "gland in-situ", and some cases turn out to have transient CH. Based on our search for current screening programs, approximately 71 percent of babies worldwide are not born in an area with an established NBS program, despite the existence of screening for over five decades in developed countries. Thus, the majority of babies with CH worldwide are not detected and treated early, such that the economic burden of retardation owing to CH remains a significant public health challenge.

KEYWORDS:

TSH cutoff; central (secondary) congenital hypothyroidism; congenital hypothyroidism; cost-effectiveness; neurodevelopment; newborn screening; “gland-in-situ”

PMID:
24629860
DOI:
10.1016/j.beem.2013.05.008
[Indexed for MEDLINE]

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