Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

[pendred syndrome]

Pendred syndrome (PS ), a recessive disorder caused by mutations in the SLC 26 A 4 (PDS ) gene , is associated with deafness and goiter . SLC 26 A 4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct ; nonsyndromic EVA ). Our aim was to describe systematically the thyroidal phenotypes and the SLC 26 A 4 genotypes of patients presenting with PS or nonsyndromic EVA .Nineteen patients with PS and 23 patients with nonsyndromic EVA , aged 5 -53 years , were included . They underwent thyroid evaluation (physical examination , biological thyroid function tests , measurement of thyroglobulin level , thyroid ultrasonography , and thyroid (123 )I scintigraphy with perchlorate discharge test ), otological evaluation , and SLC 26 A 4 mutation screening .In 19 patients with PS , goiter was identified in 15 (79 %) and hypothyroidism in 15 (79 %); hypothyroidism was subclinical in four patients and congenital in six patients . The perchlorate discharge test (PDT ) was positive in 10 /16 (63 %). Morphological evaluation of the inner ear using MRI and /or CT showed bilateral EVA in 15 /15 PS patients . Mutation screening revealed two SLC 26 A 4 mutant alleles in all 19 PS patients that were homozygous in two families and compound heterozygous in 12 families . In the 23 patients with nonsyndromic EVA , systematic thyroid evaluation found no abnormalities except for slightly increased thyroglobulin levels in two patients . SLC 26 A 4 mutations were identified in 9 /23 (39 %). Mutations were biallelic in two (compound heterozygous ) and monoallelic in seven patients .The thyroid phenotype is widely variable in PS . SLC 26 A 4 mutation screening is needed in patients exhibiting PS or nonsyndromic EVA . PS is associated with biallelic SLC 26 A 4 mutations and nonsyndromic EVA with no , monoallelic , or biallelic SLC 26 A 4 mutations . Systematic thyroid evaluation is recommended in patients with nonsyndromic EVA associated with one or two SLC 26 A 4 mutations . We propose using a combination of three parameters to define and diagnose PS : (i ) sensorineural deafness with bilateral EVA ; (ii ) thyroid abnormality comprising goiter and /or hypothyroidism and /or a positive PDT ; (iii ) biallelic SLC 26 A 4 mutations .

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Diseases presenting "measurement of thyroglobulin level" symptom

pendred syndrome

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