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Congenital hypothyroidism - what's new?

Lookup NU author(s): Dr Laura Lane, Professor Timothy Cheetham


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© 2015 Elsevier Ltd. Congenital hypothyroidism (CHT) represents an anatomical, biochemical and clinical spectrum with associated implications in terms of management and outcome. At one end of the spectrum of primary thyroid dysfunction is the child with thyroid agenesis and no significant endogenous thyroid function. This baby will require full thyroxine replacement. At the other end of the spectrum is the baby with a subtle increase in thyroid-stimulating hormone (TSH) levels, a normally sited thyroid gland and significant associated endogenous thyroid hormone generation. This baby will require a smaller dose of thyroxine supplementation to normalise TSH concentrations. The TSH 'threshold' that warrants intervention is unknown, although local thyroid hormone 'normal ranges' may be derived from adults and hence may not be representative of thyroid hormone levels in healthy neonates. The outlook for treated babies with CHT is excellent but there may still be subtle, long-term consequences of relatively low thyroxine concentrations in utero despite prompt diagnosis and treatment.

Publication metadata

Author(s): Lane LC, Cheetham T

Publication type: Review

Publication status: Published

Journal: Paediatrics and Child Health

Year: 2015

Volume: 25

Issue: 7

Pages: 302-307

Print publication date: 01/07/2015

Online publication date: 14/03/2015

Acceptance date: 01/01/1900

ISSN (print): 1751-7222

ISSN (electronic): 1878-206X

Publisher: Churchill Livingstone


DOI: 10.1016/j.paed.2015.02.009