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Last update 08 May 2025

Pendred Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Autosomal Recessive Sensorineural Hearing Impairment and Goiter, DEAFNESS WITH GOITER, Deafness with goiter

+ [37]

Introduction

A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.

Drugs associated with Pendred Syndrome

Sirolimus

Target

mTOR

Mechanism

mTOR inhibitors

Active Org.

Santen Pharmaceutical Co., Ltd. [+30]

Originator Org.

Pfizer Inc.

Active Indication

Vascular Malformations [+94]

Inactive Indication

Acute Erythroblastic Leukemia [+123]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

United States

First Approval Date15 Sep 1999

Clinical Trials associated with Pendred Syndrome

NCT05970445

/ Active, not recruitingNot ApplicableIIT

Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)

The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.

Start Date15 May 2023

Sponsor / Collaborator

Chinese People's Liberation Army General Hospital

JPRN-jRCT2091220361

/ CompletedPhase 1/2IIT

A Phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/ DFNB4 - PENDLRA trial

Start Date09 Aug 2018

Sponsor / Collaborator

Keio University

JPRN-JMA-IIA00361

/ CompletedPhase 1/2IIT

A Phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/ DFNB4

Start Date05 Jul 2018

Sponsor / Collaborator

Keio University

100 Clinical Results associated with Pendred Syndrome

100 Translational Medicine associated with Pendred Syndrome

0 Patents (Medical) associated with Pendred Syndrome

530

Literatures (Medical) associated with Pendred Syndrome

20 Apr 2025·Journal of Audiology and Otology

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement

Article

Author: Puppa, Lara Della ; Murgia, Alessandra ; Corona, Giuseppe ; Miolo, Gianmaria ; Margiotta, Francesco

Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report the case of a 29-year-old male patient with hearing loss, bilateral enlargement of the vestibular aqueduct (EVA), and vestibular system dysfunction. Based on these features, which are tipically indicative of Pendred syndrome, a molecular investigation including the SLC26A4 gene was performed. This analysis identified a novel heterozygous missense variant, c.411A>C, in exon 4 of the DIAPH3 gene, likely associated with autosomal dominant auditory neuropathy. This point mutation results in substituting glutamic acid with aspartic acid at position 137 p.(Glu137Asp), in the functional Rho-GTPase-binding domain of the DIAPH3 protein. Segregation analysis of the parents and two siblings of the proband revealed the variant’s de novo origin. According to the American College of Medical Genetics and Genomics criteria, this finding underscores the need to reclassify the variant as likely pathogenic. This is the first evidence of an association between a DIAPH3 variant and hearing loss coupled with bilateral EVA and vestibular system dysfunction. This finding contributes to a better understanding of the phenotypic complexity of disorders grouped within the auditory neuropathy spectrum.

01 Feb 2025·The Laryngoscope

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct

Article

Author: Kang, Shuoshuo ; Yang, Shiming ; Wang, Qian ; Guo, Weiwei ; Zhuang, Boxiang ; Du, Haiqiao ; Chen, Chenyu ; Li, Jianan ; Lin, Chang ; Li, Menghua ; Wang, Shuwei ; Wang, Rong

ObjectiveTo summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA).DesignA retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology.ResultsThere was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes, or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age.ConclusionsWe propose that the presence and absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.Level of Evidence3 Laryngoscope, 135:848–856, 2025

18 Nov 2024·The Journal of Clinical Endocrinology & Metabolism

Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer

Article

Author: Plukker, John T M ; Brouwers, Adrienne H ; Links, Thera P ; Tissing, Wim J E ; van Dam, Eveline W C M ; Peeters, Robin P ; Kremer, Leontien C M ; Bocca, Gianni ; Klein Hesselink, Mariëlle S ; Ronckers, Cécile M ; Ruano, Dina ; Corssmit, Eleonora P M ; van Santen, Hanneke M ; Morreau, Hans ; Netea-Maier, Romana T ; Smit, Jan W A ; van den Heuvel-Eibrink, Marry M ; Hes, Frederik J ; van der Tuin, Karin ; Knijnenburg, Jeroen ; Nies, Marloes ; van Velsen, Evert F ; van der Pal, Helena J H ; Burgerhof, Johannes G M ; Havekes, Bas ; van Leeuwaarde, Rachel S ; van der Luijt, Rob B

AbstractContextThe underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predictive testing of family members and preventive clinical management.ObjectiveOur objectives were to investigated the potential heritability in the largest childhood NMTC cohort that has been genotyped to date.MethodsNationwide retrospective cohort study in tertiary referral centers. In total, 97 patients diagnosed with pediatric NMTC between 1970 and 2020 were included in this study. Patients underwent germline whole genome sequencing. The main outcome measures were mutation detection yield in (1) clinically relevant tumor predisposition genes and (2) genes previously associated with NMTC.ResultsIn total, 13 of 97 patients (13%) carried a germline (likely) pathogenic variant in a well-known tumor predisposition gene: APC (n = 1), BRCA2 (n = 2), CHEK2 (n = 4), DICER1 (n = 4), HOXB13 (n = 1), and MITF (n = 1). In addition, 1 patient was diagnosed with Pendred syndrome (SLC26A4) and 9 variants of high interest were found in other NMTC candidate susceptibility genes.ConclusionThe reported prevalence (13%) of germline variants in well-known tumor predisposing genes and the added value of a revised personal/family history and histology led us to recommend genetic counseling for all patients with childhood NMTC. The detected tumor predisposition syndromes are associated with a risk for second cancers which necessitates additional surveillance of the index patients and presymptomatic genetic testing of at risk family members.

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Pendred Syndrome

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