Dataset Information
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Ontology highlight
ABSTRACT:
SUBMITTER: Islam MS
PROVIDER: S-EPMC12690199 | biostudies-literature | 2025 Dec
REPOSITORIES: biostudies-literature
Publications
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Endocrine 20250916 3
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: This study, conducted at a university research center in Miami, USA and Khartoum, Sudan ...[more]