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Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSH? Subunit Gene.

ABSTRACT: Congenital central hypothyroidism (CCH) is a rare condition occurring in 1?:?20000 to 1?:?50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for developmental delay and growth failure. We report on a girl with isolated central hypothyroidism due to a homozygous one-base pair deletion (T313del) in exon 3 of the TSH? subunit gene. The molecular genetic and typical radiologic findings are discussed, and a systematic diagnostic workup for congenital central hypothyroidism is proposed. Physicians need to be aware of this rare condition to avoid diagnostic delay and to install prompt replacement therapy.

SUBMITTER: Grunert SC

PROVIDER: S-EPMC3350182 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.

Grünert Sarah Catharina SC Schmidts Miriam M Pohlenz Joachim J Kopp Matthias Volkmar MV Uhl Markus M Schwab Karl Otfried KO

Case reports in pediatrics 20111221

Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for developmental delay and growth failure. We report on a girl with isolated central hypothyroidism due to a homozygous one-base pair deletion (T313del) in exon 3 of the TSHβ subunit gene. The molecular g ...[more]

PMID: 22606512

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