A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
Abstract
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. 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. Thyroid Tc-99 m scan showed increased radiotracer uptake. One...
Paper Details
Title
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
Published Date
May 2, 2018
Journal
Volume
19
Issue
1
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