Archive
2020, Volume 6
2019, Volume 5
2018, Volume 4
2017, Volume 3
2016, Volume 2
2015, Volume 1




Volume 6, Issue 2, December 2020, Page: 23-25
Goiter and Sensorineural Hearing Loss: Pendred Syndrome Should Be Suspected: A Case Report
Sana Mallouk, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Zouhair Najib, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Omar Iziki, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Youssef Oukessou, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Sami Rouad, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Reda Abada, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Mohamed Mahtar, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Mohamed Roubal, Department of Otorhinolaryngology, Head and Neck Surgery, King Hassan II University Hospital, Casablanca, Morocco
Received: Mar. 20, 2020;       Accepted: May 7, 2020;       Published: Jul. 13, 2020
DOI: 10.11648/j.ijo.20200602.11      View  122      Downloads  20
Abstract
BACKGROUND: Pendred syndrome (PS) is an autosomal recessive disorder, caused by biallelic mutations in the SLC26A4 gene which codes for the pendrin protein. It is characterized by sensorineural hearing loss associated with dyshormonogenic goiter. Which is a common cause of congenital deafness. CASE PRESENTATION: Hereby we describe a case of a 21- year-old women who presented to the ORL department with an anterior cervical mass that gradually increased in volume over 3 years associated with severe hearing loss since birth for which the patient was provided with hearing aids. Pendred syndrome is suspected because of the present of goiter and congenital hearing loss. CONCLUSIONS: Clinical presentation is very variable. However, the association of goiter and progressive deafness suggests the diagnosis of Pendred syndrome.
Keywords
Goiter, Sensorineural Deafness, Pendred Syndrome
To cite this article
Sana Mallouk, Zouhair Najib, Omar Iziki, Youssef Oukessou, Sami Rouad, Reda Abada, Mohamed Mahtar, Mohamed Roubal, Goiter and Sensorineural Hearing Loss: Pendred Syndrome Should Be Suspected: A Case Report, International Journal of Otorhinolaryngology. Vol. 6, No. 2, 2020, pp. 23-25. doi: 10.11648/j.ijo.20200602.11
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Reference
[1]
Pendred V. Deaf-mutism and goitre. Lancet 1896; ii: 532.
[2]
Rozenfeld J, Efrati E, Adler L, Tal O, Carrithers SL, Alper SL, Zelikovic I. Transcriptional regulation of the pendrin gene. Cell. Physiol. Biochem. 2011; 28 (3): 385-96.
[3]
Smith N, U-King-Im JM, Karalliedde J. Delayed diagnosis of Pendred syndrome. BMJ Case Rep. 2016 Sep 12; 2016.
[4]
Wémeau JL, Kopp P. Pendred syndrome. Best Pract. Res. Clin. Endocrinol. Metab. 2017 Mar; 31 (2): 213-224).
[5]
Heffield VC, Kraiem Z, Beck JC, et al. Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996; 12: 424–6.
[6]
Bizhanova A, Kopp P. Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid. Endocrinology 2009; 150 (3): 1084-90.
[7]
Royaux IE, Belyantseva IA, Wu T, et al. Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in Pendred syndrome. J Assoc Res Otolaryngol 2003; 4: 394–404.
[8]
Royaux IE, Wall SM, Karniski LP, et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A 2001; 98: 4221–6.
[9]
Ladsous M, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, et al. 437 Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic 438 enlargement of the vestibular aqueduct. Thyroid. 2014; 24: 639-48.
[10]
Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 2010; 322: 83–90.
[11]
Cremers WR, Bolder C, Admiraal RJ, Everett LA, Joosten FB, van Hauwe P, et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg. 1998; 124: 501-5.
[12]
Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K. Prevalence, age of onset and natural history of thyroid disease in Pendred syndrome. J Med Genet 1999; 36: 595—8].
[13]
Boniver R. Le syndrome de Pendred. Cah ORL 1988; XXIII (7): 485—7].
[14]
Arwert LI, Sepers JM. Goitre and hearing impairment in a patient with Pendred syndrome. Neth J Med 2008; 66: 118—20].
[15]
Sreekar H, Uppia V, Patil S, Mutkekar A. Pendred SyndromE with Retrosternal Goitre. ndian J Surg 2013. 2013; 75: S329-S30.
[16]
Guo-Xia Tong1 & Qing Chang1 & Diane Hamele-Bena & John Carew1 & Richard S. Hoffman1 & Marina N. Nikiforova & Yuri E. Nikiforov. Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma Endocr Pathol. 2016 Mar; 27 (1): 70-5.].
[17]
Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, et al. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. J Clin Endocrinol Metab. 2000; 85: 2469-75.
[18]
Goldfeld, M., Glaser, B., Nassir, E., Gomori, J. M., Hazani, E., & Bishara, N. (2005). CT of the Ear in Pendred Syndrome. Radiology, 235 (2), 537–540.
[19]
Preedy V, Burrow G, Watson R, editors. The Comprehensive Handbook on Iodide. San 465 Diego: Elsevier; 2009. p. 231-41.
[20]
Tong, G.-X., Chang, Q., Hamele-Bena, D., Carew, J., Hoffman, R. S., Nikiforova, M. N., c & Nikiforov, Y. E. (2016). Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. Endocrine Pathology, 27 (1), 70–75.
[21]
Van Nierop, J. W. I., Huinck, W. J., Pennings, R. J. E., Admiraal, R. J. C., Mylanus, E. A. M., & Kunst, H. P. M. (2016). Patients with Pendred syndrome: is cochlear implantation beneficial? Clinical Otolaryngology, 41 (4), 386–394.
Browse journals by subject