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Article

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.

Thyroid : official journal of the American Thyroid Association - 1 Dec 2016

Tenenbaum-Rakover Yardena, Turgeon Marc-Olivier, London Shira, Hermanns Pia, Pohlenz Joachim, Bernard Daniel J, Bercovich Dani

Abstract excerpt

BACKGROUND: Congenital hypothyroidism of central origin (CH-C) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin stimulation of a normal thyroid gland. A recently described syndrome of isolated CH-C and macroorchidism was attributed to loss-of-function mutations of the immunoglobulin superfamily, member 1 gene (IGSF1). PATIENTS AND METHODS: CH-C was diagnosed in three...

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Source

Identifiers

PMID: 27310681
DOI: 10.1089/thy.2015.0672

Genes

IGSF1
TRH
TRHR
TSHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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