[…] impairment is first diagnosed. presentation 16. presentation • most Pendred patients develop a goiter during adolescence or adulthood. • Although neonates with Pendred syndrome rarely have goitre. • approximately 75% of affected persons will eventually [slideshare.net]

Although it is the commonest form of syndromic hearing loss, the variable clinical presentation contributes to the difficulty in securing a diagnosis. [ncbi.nlm.nih.gov]

Conclusions Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. [helda.helsinki.fi]

A thyroid goitre may be present in the first decade and is usual towards the end of the second decade. [en.wikipedia.org]

• Goiter

  […] during adolescence or adulthood. • Although neonates with Pendred syndrome rarely have goitre. • approximately 75% of affected persons will eventually develop a multinodular or diffuse goiter • Patients are usually euthyroid. 17. • Sometimes the goiter [slideshare.net]

  Test Name Hearing Loss - Pendred Syndrome: SLC26A4 Sequencing Alternate Name/ Synonym PDS Deafness with Goiter Enlarged Vestibular Aqueduct and Goiter Gene Name SLC26A4 Alternate Gene Name PDS; DFNB4 Test Code PENDR Division Molecular Genetics Method [sickkids.ca]

  Pendred syndrome - a type of familial goiter. [medical-dictionary.thefreedictionary.com]

  Other Names for This Condition Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter Deafness with goiter Goiter-deafness syndrome Pendred's syndrome References Bizhanova A, Kopp P. [medlineplus.gov]

• Euthyroid

  Pen·dred syn·drome ( PDS ), ( pen'drĕd ), [MIM*274600] characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal [medical-dictionary.thefreedictionary.com]

  • increased deiodinase activities in goiters of PS patients and the resulting increased intrathyroidal conversion of T4 into T3 Pathophysiology (euthyroidism) 12. • hearing impairment is the leading manifestation. • Always bilateral. • although one [slideshare.net]

  Test Information Background Specimen Requirements Ordering Interpretation Related Pages Requisition Clinical Significance Pendred syndrome is characterized by congenital sensorineural hearing loss, temporal bone anomalies, and the development of euthyroid [sickkids.ca]

  It appears that their compensated euthyroid state was maintained by the raised T-3 levels. [ncbi.nlm.nih.gov]

• Camping

  Top Tube Alternative Specimen: Oral Rinse (30-40 mL) | Buccal Swabs Billing ICD Codes: 241.1 Nontoxic multinodular goiter Multinodular goiter (nontoxic) 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness References Smith, R. and Van Camp [genedx.com]

  PS has an autosomal recessive inheritance pattern and results from mutations of the SLC26A4 gene found on Chromosome 7 (Smith & Van Camp, 2006). [asha.org]

  La maladie présente une extrême variabilité inter et intra familiale dans la gravité des symptômes et l'âge de leur apparition Sources (en) Richard JH Smith, Guy Van Camp, Pendred Syndrome In GeneTests: Medical Genetics Information Resource (database [fr-academic.com]

  […] mutated gene, but they typically do not show signs and symptoms of the condition. autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter deafness with goiter goiter-deafness syndrome Pendred's syndrome Alasti F, Van Camp [ghr.nlm.nih.gov]

  Medline, Google Scholar 3 Stinckens C, Huygen PL, Joosten FB, Van Camp G, Otten B, Cremers CW. Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome. [pubs.rsna.org]

• Swelling

  Physical examination and computer tomography CT revealed a diffuse swelling of the thyroid gland. Thyroid function tests were normal, and the perchlorate discharge test was negative. [ncbi.nlm.nih.gov]

  For those who develop goiters large enough to cause breathing or swallowing difficulties, treatment may include shrinking the swelling or surgery to remove all or part of the thyroid. [hiddenhearing.co.uk]

  Some individuals may also experience an abnormal enlargement of the thyroid (also known as a goiter) which can present itself as a large swelling at the base of the neck. [myriad.com]

  Case report: A 19-year-old man admitted to our clinic with swelling in his neck. Congenital hypothyroidism was diagnosed at the age of one. His twin brother and his sister had been diagnosed as congenital hypothyroidism when they were one year old. [endocrine-abstracts.org]

• Myxedema

  Deafness is encountered in association with 3 types of thyroid disorders: adult myxedema, endemic cretinism, and Pendred's syndrome. [jamanetwork.com]

  Myxedema coma. Endocrinol Metab Clin North Am. 2006 Dec. 35(4):687-98, vii-viii. [Medline]. Turner MR, Camacho X, Fischer HD, et al. Levothyroxine dose and risk of fractures in older adults: nested case-control study. BMJ. 2011 Apr 28. 342:d2238. [medscape.com]

• Heart Failure

  Cardiomyopathy: A disease of the heart muscle in which the heart muscle can become thick, enlarged, or stiff. ACE Inhibitors: A drug used to lower blood pressure and heart failure by reducing the amount of angiotensin II. [igi-global.com]

  Subclinical Hypothyroidism Is Associated With Adverse Prognosis in Heart Failure Patients. Can J Cardiol. 2018 Jan. 34 (1):80-7. [Medline]. Zamfirescu I, Carlson HE. Absorption of levothyroxine when coadministered with various calcium formulations. [medscape.com]

• Hearing Impairment

  impairment euthyroid or hypothyroid goiter Organification defect 19. • The conclusive evidence of Pendred syndrome: • Disease-producing mutations in both alleles of the SLC26A4/PDS gene in a person with hearing impairment and thyroid pathology (goiter [slideshare.net]

  Pen·dred syn·drome ( PDS ), ( pen'drĕd ), [MIM*274600] characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal [medical-dictionary.thefreedictionary.com]

  Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. [scholars.northwestern.edu]

  Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge. [tandfonline.com]

Children who are diagnosed with sensorineural hearing loss and who go on to have imaging studies as part of their workup will have EVA 5-15 percent of the time. It may not be that the EVA is the cause of the hearing loss but the underlying defect. [uhhospitals.org]

• Thyroid-Stimulating Hormone Increased

  Deficiency of thyroxin synthesis occurs, Thyroid stimulating hormone increases, and the thyroid gland enlargement is seen31. [ayubmed.edu.pk]

Malignant potintial 33. treatment • optimal treatment of patients with Pendred syndrome requires collaboration of : • Pediatricians. • Endocrinologists. • Geneticists. • phoniatrists/pediatric audiologists. • ENT specialists. • and neuroradiologists. [slideshare.net]

[…] edit] No specific treatment exists for Pendred syndrome. [en.wikipedia.org]

Additionally, candidacy for cochlear implantation, currently the only medical treatment available for the treatment of profound sensorineural hearing loss, cannot be established without a comprehensive medical examination. [californiaearinstitute.com]

Treatment Is there a treatment(s) for Pendred syndrome? There are treatments for the symptoms of Pendred syndrome, but as of January 2016, there is no cure. [thinkgenetic.com]

TREATMENT Treatment for Pendred Syndrome is symptomatic depending on the features of an individual. [evolvegene.com]

Prognosis Patients with PDS may have progressive hearing loss, although it is not yet possible to identify these patients in advance. [orpha.net]

COMMON Features of the Disorder Hearing loss Ear abnormality (i.e. enlarged vestibular aqueduct) Balance problems Thyroid enlargement (i.e. goiters) PROGNOSIS Individuals with the disorder have onset of deafness during infancy, although some individuals [evolvegene.com]

What Is the Prognosis for an Individual with Pendred Syndrome? Pendred syndrome causes moderate to profound hearing loss but does not affect lifespan. [myriad.com]

Prognosis ... Treatment ... Care ... Prevention ... [ibis-birthdefects.org]

If a genetic etiology is not determined from Tier I, testing may then proceed to the OtoSeq panel by next-generation sequencing. This two-tiered approach provides the most thorough diagnostic genetic evaluation available today. [cincinnatichildrens.org]

Usher syndrome accounts for a large percentage of the etiology of deaf-blindness. The dual sensory impairment has huge implications for communication and education. [emedicine.medscape.com]

Etiology Biallelic or double heterozygous genetic mutations are identified in about half of patients: biallelic mutations in SLC26A4 (7q31), or double heterozygous mutations in SLC26A4 and FOXI1 (5q34), or in SLC26A4 and KCNJ10 (1q23.2). [orpha.net]

When PS and nonsydromal LVA are considered part of the same disease spectrum, the prevalence of this disorder as an etiology for congenital deafness is 5.5% (Smith & Van Camp, 2006). [asha.org]

• Most common cause of syndromic deafness Epidemiology 7. [slideshare.net]

Summary Epidemiology PDS is one of the most frequent forms of syndromic genetic deafness. Although prevalence is unknown, PDS may account for up to 7.5% of cases of congenital hearing loss. [orpha.net]

Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.es]

Pathophysiology (goitre) 11. • increased deiodinase activities in goiters of PS patients and the resulting increased intrathyroidal conversion of T4 into T3 Pathophysiology (euthyroidism) 12. • hearing impairment is the leading manifestation. • Always [slideshare.net]

The recent functional characterization of pendrin, the protein encoded by the PDS gene, as a transporter of iodide and chloride is a key step in further elucidating its role in the pathophysiology of both the inner ear and thyroid follicular cells. [journals.lww.com]

Elucidation of the molecular basis of Pendred syndrome and the function of pendrin has provided unexpected novel insights into the pathophysiology of the inner ear, thyroid hormone synthesis, and chloride/bicarbonate exchange in the kidney. [scholars.northwestern.edu]

Early intervention measures can be taken to prevent disease progression and reduce thyroid growth, thereby reducing the likelihood of obstruction and canceration. [spandidos-publications.com]

Mutations in the SLC26A4 gene prevent pendrin activity and create an imbalance of ions, disrupting the development and maintenance of the thyroid gland and the inner ear. The condition is inherited in an autosomal recessive pattern. [evolvegene.com]

Bilateral Hearing Loss Unilateral Hearing Loss Conductive Hearing Loss High Frequency Hearing Loss Low Frequency Hearing Loss Sensorineural Hearing Loss Hearing Problems Fungal Ear Infections Outer Ear Infections Middle Ear Infections Tinnitus Can You Prevent [hiddenhearing.co.uk]

Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]

Prevention ... OMIM number ... ________________________________________________________________________________________________ Last Updated: 2008/2/20 ________________________________________________________________________________________________ [ibis-birthdefects.org]