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Article

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

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

Nishigaki Satsuki, Hamazaki Takashi, Fujita Keinosuke, Morikawa Shuntaro, Tajima Toshihiro, Shintaku Haruo

Abstract excerpt

BACKGROUND: Hemizygous mutations in the immunoglobulin superfamily member 1 (IGSF1) gene have been demonstrated to cause congenital central hypothyroidism in males. This study reports a family with a novel mutation in the IGSF1 gene located on the long arm of the X chromosome. PATIENT FINDINGS: A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin-releasing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27762734
DOI: 10.1089/thy.2016.0005

Genes

IGSF1
TRH

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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A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.PMID 27762734Read ↗

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Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.Semantic proximity Read ↗

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.Semantic proximity Read ↗

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.Semantic proximity Read ↗

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.Semantic proximity Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and MacroorchidismSemantic proximity Read ↗

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