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Article

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

The Journal of clinical investigation - 15 Jun 1997

Abramowicz M J, Duprez L, Parma J, Vassart G, Heinrichs C

Abstract excerpt

Thyroid gland agenesis is the most common cause of congenital hypothyroidism and is usually sporadic. We investigated a brother and sister from consanguineous parents, ascertained through systematic newborn screening, and initially diagnosed with thyroid agenesis. Careful cervical ultrasonography in both patients revealed a very hypoplastic thyroid gland. By direct sequencing of the thyrotropin receptor gene, we...

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Identifiers

PMID: 9185526
DOI: 10.1172/JCI119497
PMCID: PMC508154

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