Goiter and hearing impairment: A case of a male patient with Pendred syndrome

Hu,Er-Wei; Liu,Li-Bin; Jiang,Ruo-Yu; He,Xiang-Hui

doi:10.3892/ol.2014.2461

November-2014 Volume 8 Issue 5

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

November-2014 Volume 8 Issue 5

Full Size Image

Article

Goiter and hearing impairment: A case of a male patient with Pendred syndrome

Authors:
- Er-Wei Hu
- Li-Bin Liu
- Ruo-Yu Jiang
- Xiang-Hui He
View Affiliations / Copyright

Affiliations: Department of General Surgery, Tianjin Medical University General Hospital, Heping, Tianjin 300052, P.R. China
Pages: 2059-2062
|
Published online on: August 19, 2014

https://doi.org/10.3892/ol.2014.2461
Expand metrics +

Abstract

Pendred syndrome is a rare genetic disease that causes a disturbance in thyroid hormone synthesis, which results in thyroid dysfunction and the development of goiter and sensorineural deafness. The present report describes the case of a young euthyroid male, who developed a large goiter and hearing impairment, despite no family history of these conditions. A left lobectomy and a subtotal right lobectomy were performed, and the patient was administered permanent hormone replacement therapy with thyroxine. Patients with Pendred syndrome exhibit distinct clinical features and the mechanisms associated with the molecular genetics of this disease have been clarified. Thus, gene detection is considered to be a reliable diagnostic method. Certain patients require surgical intervention in order to relieve the symptoms. Misdiagnosis can be significantly reduced by increasing the understanding of Pendred syndrome.

View Figures

View References

1	Pendred V: Deaf mutism and goiter. Lancet. 148:5321896.
2	Kandasamy N, Fugazzola L, Evans M, et al: Life-threatening metabolic alkalosis in Pendred syndrome. Eur J Endocrinol. 165:167–170. 2011.
3	Hazarika NC and Mahanta J: Environmental iodine deficiency and goiter prevalence in a block area of the North Eastern region: a retrospective analysis. J Hum Ecol. 15:113–117. 2004.
4	Kopp P, Pesce L and Solis-S JC: Pendred syndrome and iodide transport in the thyroid. Trends Endocrinol Metab. 19:260–268. 2008.
5	Reardon W, Coffey R, Phelps PD, et al: Pendred syndrome --100 years of underascertainment. QJM. 90:443–447. 1997.
6	Fagazzloa L, Cerutti N, Mannavola D, et al: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res. 51:479–484. 2002.
7	Kandasamy N, Fugazzola L, Evans M, et al: Life-threatening metabolic alkalosis in Pendred syndrome. Eur J Endocrinol. 165:167–170. 2011.
8	Sugiura M, Sato E, Nakashima T, et al: Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. Eur Arch Otorhinolaryngol. 262:737–743. 2005.
9	Griffith AJ, Telian SA, Downs C, et al: Familial Mondini dysplasia. Laryngoscope. 108:1368–1373. 1998.
10	Nosé V: Thyroid cancer of follicular cell origin in inherited tumor syndromes. Adv Anat Pathol. 17:428–436. 2010.
11	Massa G, Jaenen N, de Varebeke SI, et al: Solitary thyroidnoduleas presenting syndrome of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. Eur J Pediate. 162:674–677. 2003.
12	Bizhanova A and Kopp P: Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 322:83–90. 2010.
13	Dhahiry JS, Niamey TK, Daher AK and Biati RK: Pendred’s syndrome; a case report and review of literatures. The Medical Journal of Basrah University. 29:40–42. 2011.
14	De La Vieja A, Gnter CS and Carrasco N: Molecular analysis of a congenital iodide transport defect: G543E impairs maturation and trafficking of the Na+/I- symporter. Mol Endocrinol. 19:2847–2858. 2005.
15	Derarmaeker R: Congenital deafness and goiter. Am J Hum Genet. 8:253–256. 1956.
16	Scott DA, Wang R, Kreman TM, et al: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 21:440–443. 1999.
17	Reardon W, Coffey R, Pembrey ME, et al: Pitfalls in practice- diagnosis and misdiagnosis in Pendred syndrome. J Audiol Med. 6:1–9. 1997.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Goiter and hearing impairment: A case of a male patient with Pendred syndrome

This article is mentioned in:

Abstract

Figure 1

Figure 2

Figure 3

Related Articles