Tip 221: congenital hypothyroidism

The usual mode of presentation is by the finding of an elevated TSH detected on the Newborn Screening Programme, as neonates are usually subclinically affected. It affects 1 in 3000 live births.

If clinical features are present, they include: dry skin, hoarse cry, constipation, prominent tongue, umbilical hernia, hypothermia, bradycardia and failure to thrive.

External link: UK National Screening Committee (2012). Congenital hypothyroidism is suspected.

Previously published: 09/02/15

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This entry was posted in Congenital anomalies, Endocrine, Screening. Bookmark the permalink.

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