Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and
noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of …

Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …

Background Pendred syndrome (OMIM274600) is one of the causes of congenital
hypothyroidism due to thyroid dyshormonogenesis. It is an autosomal recessive disease …

Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by
sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic …

Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …

Abstract Design Patients with Pendred syndrome have genotypic and phenotypic variability,
leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular …

Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …

Ben Rebeh I, Yoshimi N, Hadj‐Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel
A, Ayadi H, Masmoudi S and Miyazaki H. Two missense mutations in SLC26A4 gene: a …

Discussion Pendred Syndrome, an autosomal recessive disorder caused by germline
mutations most commonly in the PDS (SLC26A4) gene, affects 7–10/10,000 people in the …