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Article

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Oct 1997

Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A

Abstract excerpt

The pathogenesis of congenital hypothyroidism due to thyroid dysgenesis is still unknown. A point mutation in the TSH receptor (TSHR) of the hypothyroid hyt/hyt mouse invoked the TSHR as a candidate gene for congenital hypothyroidism. Therefore, we screened for mutations in the TSHR gene in patients with congenital hypothyroidism and hypoplasia of the gland. In one girl detected in neonatal screening with the...

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Source

Identifiers

PMID: 9329388
DOI: 10.1210/jcem.82.10.4286

Genes

TSHR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.PMID 9329388Read ↗

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Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital HypothyroidismSemantic proximity Read ↗

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Identification of a New Thyrotropin Receptor Germline Mutation (Leu629Phe) in a Family with Neonatal Onset of Autosomal Dominant Nonautoimmune HyperthyroidismSemantic proximity Read ↗

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Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical HypothyroidismSemantic proximity Read ↗

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