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Article

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Journal of clinical research in pediatric endocrinology - 23 Aug 2021

Türkkahraman Doğa, Karataş Torun Nimet, Randa Nadide Cemre

Abstract excerpt

Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed...

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Identifiers

PMID: 32772515
DOI: 10.4274/jcrpe.galenos.2020.2020.0149
PMCID: PMC8388056

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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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