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Article

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4.

Frontiers in endocrinology - 1 Jan 2021

Patyra Konrad, Makkonen Kristiina, Haanpää Maria, Karppinen Sinikka, Viikari Liisa, Toppari Jorma, Reeve Mary Pat, Kero Jukka

Abstract excerpt

Background: Central hypothyroidism (CeH) is a rare condition affecting approximately 1:16 000- 100 000 individuals. Congenital forms can harm normal development if not detected and treated promptly. Clinical and biochemical diagnosis, especially of isolated CeH, can be challenging. Cases are not usually detected in neonatal screening, which, in most countries, is focused on detection of the more prevalent primary...

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Identifiers

PMID: 34093435
DOI: 10.3389/fendo.2021.658137
PMCID: PMC8176851

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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