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Betegségjelentés · Endocrine

Pendred Syndrome

Whole genome sequencing reads the complete SLC26A4 gene (including deep intronic variants recently shown to be pathogenic), providing the molecular diagnosis that distinguishes Pendred syndrome from non-syndromic DFNB4 and guides cochlear implant candidacy.

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A(z) condition ismertetése

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Pendred syndrome is an autosomal recessive disorder caused by biallelic pathogenic variants in SLC26A4 (chromosome 7q22.3), encoding pendrin, an anion transporter expressed in the inner ear, thyroid, and kidney. In the inner ear, pendrin is critical for endolymphatic fluid homeostasis; its deficiency causes enlargement of the vestibular aqueduct (EVA) and cochlear anomalies (incomplete partition type II/Mondini malformation). SLC26A4 pathogenic variants are the most common cause of syndromic hereditary hearing loss worldwide and account for approximately 5-10% of all hereditary sensorineural hearing loss.

Hearing loss in Pendred syndrome is typically congenital or early-onset, bilateral, sensorineural, and often progressive; fluctuating losses triggered by minor head trauma or barotrauma are characteristic due to the enlarged vestibular aqueduct. The thyroid component is a euthyroid or subclinical hypothyroid goiter that typically appears in late childhood or adolescence. Many patients never develop clinically apparent goiter, leading to underdiagnosis: they are classified as having 'non-syndromic hearing loss with EVA' (DFNB4) rather than Pendred syndrome. The distinction is molecular: both conditions are caused by SLC26A4 variants.

Cochlear implantation is highly effective for Pendred syndrome/DFNB4 hearing loss, with excellent speech perception outcomes in most patients, often superior to cochlear implant outcomes for other causes of deafness. However, the enlarged vestibular aqueduct anatomy creates surgical considerations (perilymphatic gusher risk during cochleostomy) and requires experienced cochlear implant surgeons. Molecular confirmation of SLC26A4 variants enables proactive thyroid monitoring (annual TSH, thyroid ultrasound), appropriate cochlear implant surgical planning, and counseling about the progressive nature of hearing loss and avoidance of head trauma.

Any child with enlarged vestibular aqueduct (EVA) on temporal bone CT or MRI should have SLC26A4 molecular testing: EVA is present in virtually 100% of biallelic SLC26A4 patients and is the most consistent radiological finding.

A vizsgált 2 betegség

Pendred Syndrome

Autoszomális recesszív

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Mit változtat a diagnózis

Hearing aids progressing to cochlear implantation; thyroid monitoring (annual TSH, thyroid ultrasound); avoidance of head trauma; surgical cochlear implantation with EVA-specific technique; levothyroxine if hypothyroid

Vizsgált gének

Más néven

autosomal recessive sensorineural hearing impairment and goiter; autosomal recessive sensorineural hearing impairment and goitre; deafness with goiter; deafness with goitre; goiter-deafness syndrome; hypothyroidism, congenital, due to dyshormonogenesis, 2B; PDS; TDH2B; thyroid dyshormonogenesis 2B; thyroid hormonogenesis, genetic defect in, 2B

MONDO:0010134OMIM 274600Orphanet 705MedGen 82890

Autosomal recessive nonsyndromic hearing loss 4 (enlarged vestibular aqueduct)

Autoszomális recesszív

SLC26A4-related hearing loss with an enlarged vestibular aqueduct but without goitre; part of the same spectrum as Pendred syndrome.

Vizsgált gének

Más néven

autosomal recessive deafness 4 with enlarged vestibular aqueduct; autosomal recessive nonsyndromic deafness 4; autosomal recessive nonsyndromic deafness type 4; DFNB4; enlarged vestibular aqueduct; enlarged vestibular aqueduct, digenic; neurosensory nonsyndromic recessive deafness 4

MONDO:0010933OMIM 600791MedGen 761234

Miért a teljes genom szekvenálás

SLC26A4 is the most common cause of sensorineural hearing loss with enlarged vestibular aqueduct. Deep intronic SLC26A4 variants are now recognized as pathogenic, and are invisible to exon-only sequencing panels.

SLC26A4 deep intronic variants resolve the 'missing second allele' problem in EVA patients

Many patients with enlarged vestibular aqueduct and hearing loss have only one identifiable SLC26A4 coding variant on standard exon sequencing: the 'missing second allele' problem. Recent research has identified deep intronic SLC26A4 variants that create aberrant splice sites, accounting for a substantial proportion of these previously unsolved cases. These intronic variants are invisible to exon-sequencing panels but are read directly by whole genome sequencing, which evaluates the complete SLC26A4 locus including all introns.

Progressive hearing loss in Pendred syndrome requires different management than stable congenital deafness

Hearing loss in SLC26A4 patients characteristically fluctuates and progresses: episodes of sudden hearing decline can be triggered by head trauma, altitude changes, or even minor physical exertion. Parents of a child with SLC26A4-confirmed hearing loss need specific counseling: avoid contact sports and activities with head trauma risk, seek immediate audiology evaluation after any head injury, and expect that hearing aids may become insufficient over time with eventual need for cochlear implantation. This progressive trajectory is different from stable congenital deafness caused by GJB2 variants and requires different longitudinal management planning.

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Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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Ingyenes szállítás · Eredmények 6–8 hét alatt

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