| Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. | |
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MedLine Citation:
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PMID: 19189692 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a young woman with genetically confirmed Pendred syndrome and discuss the current therapeutic strategies of dyshormonogenetic goitre. A small diffuse thyroid enlargement developed during infancy and although substitution therapy with L-thyroxine was adequate, it progressed and underwent multinodular transformation. Cervical ultrasound at the age of 22 years demonstrated three solid nodules and fine-needle aspiration biopsy showed a finding typical of follicular adenoma. It is known that dyshormonogenetic goitres have a tendency to grow despite appropriate treatment with L-thyroxine. Management of a patient with Pendred syndrome requires careful follow-up and regular imaging of the thyroid. Although the therapeutic approach to dyshormonogenetic goitres is still controversial, in our patient we chose total thyroidectomy as the most advantageous method to prevent the development of malignancies that may arise more frequently from dyshormonogenetic goitres than from goitres of other aetiologies. |
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Authors:
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Karolina Banghova; Ondrej Cinek; Eva Al Taji; Jirina Zapletalova; Radan Vidura; Jan Lebl |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 21 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2009-02-04 Completed Date: 2009-03-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 1179-84 Citation Subset: IM |
Affiliation:
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Department ofPaediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic. k_banghova@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Ear, Inner / abnormalities* Female Goiter, Nodular / drug therapy, genetics*, surgery* Hearing Loss, Sensorineural / genetics* Humans Membrane Transport Proteins / genetics* Mutation / genetics* Syndrome Thyroidectomy Thyrotropin / blood Thyroxine / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Membrane Transport Proteins; 0/SLC26A4 protein, human; 7488-70-2/Thyroxine; 9002-71-5/Thyrotropin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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