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Article

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.

Journal of clinical research in pediatric endocrinology - 1 Sept 2017

Özhan Bayram, Boz Anlaş Özlem, Sarıkepe Bilge, Albuz Burcu, Semerci Gündüz Nur

Abstract excerpt

Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. In this...

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Source

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Identifiers

PMID: 28515030
DOI: 10.4274/jcrpe.4595
PMCID: PMC5596811

Genes

TSHB

Variants

rs10776792

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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