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Article

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.

BMC medical genetics - 2 May 2018

Watanabe Y, Sharwood E, Goodwin B, Creech M K, Hassan H Y, Netea M G, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss R E

Abstract excerpt

BACKGROUND: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. CASE PRESENTATION: A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L (reference range: 0.7-5.9 mIU/L); free T4 < 3.2 pmol/L (reference range: 8.7-16 pmol/L); thyroglobulin (TG) 101 μg/L....

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PMID: 29720101
DOI: 10.1186/s12881-018-0588-7
PMCID: PMC5932782

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