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Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene

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Abstract

Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of malignancy. We report the case of a 4-year-old boy with sensorineural deafness, who presented with a painless mass in the right anterior cervical region. Cervical ultrasound demonstrated a solid nodule (1.4×2.5×1.7 cm) in the right thyroid lobe. Thyroid function tests revealed compensated hypothyroidism (free T4 1.0 ng/dl; TSH 57 mIU/l) with no detectable thyroid antibodies. A 99m Tc thyroid scan showed a generalised slightly increased tracer retention (4.6%) with an enlarged right lobe, without distinct nodules. A fine-needle aspiration biopsy revealed normal follicular cells. The boy was treated with l-thyroxine which resulted in a complete clinical and sonographical disappearance of the nodule. A CT scan of temporal bones revealed a bilaterally enlarged vestibular aqueduct with Mondini malformation of the cochlea. The combination of all these symptoms suggested the diagnosis of Pendred syndrome (PDS), a disorder characterised by congenital sensorineural hearing loss and a variable degree of thyromegaly due to mutations in the SLC26A4/PDS gene. DNA analysis disclosed a so far unreported homozygous splice site mutation (1002–4 C>G) in intron 8 of the SLC26A4 gene confirming this diagnosis. Conclusion: a solitary thyroid nodule may therefore be another presenting symptom of thyroid involvement in Pendred syndrome

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Abbreviations

PDS :

Pendred syndrome

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Authors and Affiliations

  1. Department of Paediatrics, Virga Jesseziekenhuis, Stadsomvaart 11, 3500 , Hasselt, Belgium

    Guy Massa & Nele Jaenen

  2. Department of Otolaryngology, Virga Jesseziekenhuis, Hasselt, Belgium

    Sebastien Janssens de Varebeke

  3. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

    Nils Peeters & Wim Wuyts

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  1. Guy Massa
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  2. Nele Jaenen
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  3. Sebastien Janssens de Varebeke
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  4. Nils Peeters
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  5. Wim Wuyts
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Correspondence to Guy Massa.

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Massa, G., Jaenen, N., Janssens de Varebeke, S. et al. Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. Eur J Pediatr 162, 674–677 (2003). https://doi.org/10.1007/s00431-003-1281-0

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  • DOI: https://doi.org/10.1007/s00431-003-1281-0

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