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Article

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Endocrine - 1 Dec 2025

Islam Mohammad S, Dumitrescu Alexandra M, Ahmed Amna, Refetoff Samuel, Weiss Roy E

Abstract excerpt

PURPOSE: Pendred syndrome (PDS) is an autosomal recessive disease caused by variants in SLC26A4 manifesting thyroid dyshormonogenesis. Patients typically present with goiter and sensorineural hearing loss (SNHL). The prevalence of PDS in non-African populations is estimated to be between 7.5 and 10 per 100,000, while its occurrence in African populations has not been reported with molecular analysis. METHODS:...

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Congenital Hypothyroidism
Consanguinity
Goiter, Nodular
Hearing Loss, Sensorineural
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40956475
DOI: 10.1007/s12020-025-04423-4
PMCID: PMC12690199

Genes

SLC26A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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