Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts

Archives of Otolaryngology - Head and Neck Surgery

Volumn 135, Issue 7, 2009, Pages 670-676

  Madeo, Anne C ^a   Manichaikul, Ani ^e   Reynolds, James C ^b   Sarlis, Nicholas J ^c   Pryor, Shannon P ^d   Shawker, Thomas H ^b   Griffith, Andrew J ^d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^e University of Virginia   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 123; LEVOTHYROXINE; LIOTHYRONINE; MEMBRANE PROTEIN; PERCHLORATE; SLC26A4 PROTEIN; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ALLELE; ANTIBODY BLOOD LEVEL; ARTICLE; CHILD; COMPARATIVE STUDY; CONTROLLED STUDY; ECHOGRAPHY; FEMALE; FOLLOW UP; FREE THYROXINE INDEX; GENOTYPE; HEALTH SURVEY; HUMAN; LIOTHYRONINE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; ORGAN SIZE; PAPILLARY CARCINOMA; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PROSPECTIVE STUDY; SCHOOL CHILD; SEROLOGY; THYROGLOBULIN BLOOD LEVEL; THYROID FUNCTION; THYROID GLAND; THYROID GLAND EXAMINATION; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TISSUE STRUCTURE; VENOUS BLOOD; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; PERCHLORIC ACID; PROSPECTIVE STUDIES; THYROID FUNCTION TESTS; THYROID GLAND; VESTIBULAR AQUEDUCT; YOUNG ADULT;

EID: 67651095755     PISSN: 08864470     EISSN: 08864470     Source Type: Journal    
DOI: 10.1001/archoto.2009.66     Document Type: Article

References (25)

1. Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope. 1978;88(5):723-728.
2. Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998;53(4):268-273.
3. Mondini C. Anatomica surdi nati sectio: bononiensi scientarium et artium instituto atque academia commentarii. Bonaniae VII. 1791;7:419-428.
4. Madeo AC, Pryor SP, Brewer C, et al. Pendred syndrome. Semin Hear. 2006;27(3):160-170.
5. Pryor SP, Park HJ, Madeo AC, Griffith AJ, Butman JA. Pendred syndrome. In: Willems PJ, ed. Genetic Hearing Loss. Vol 1. New York, NY: Marcel Dekker, Inc; 2003:75-96.
6. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17(4):411-422.
7. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998;18(3):215-217.
8. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104(2):188-192. (Pubitemid 29123612)
9. Albert S, Blons H, Jonard L, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006;14(6):773-779. (Pubitemid 43797276)
10. Coyle B, Reardon W, Herbrick JA, et al. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet. 1998;7(7):1105-1112.
11. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42(2):159-165.
12. Choi BY, Stewart AK, Madeo AC, et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphism? Hum Mutat. 2009;30(4):599-608.
13. Pendred V. Deaf-mutism and goitre. Lancet. 1896;2:532.
14. Reardon W, Coffey R, Chowdhury T, et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet. 1999;36(8):595-598. (Pubitemid 29368898)
15. Trowbridge FL, Hand KE, Nichaman MZ. Findings relating to goiter and iodine in the Ten-State Nutrition Survey. Am J Clin Nutr. 1975;28(7):712-716.
16. Christensen SB, Tibblin S. The reliability of the clinical examination of the thyroidgland: a prospective-study of 100 consecutive patients surgically treated for hyperparathyroidism. Ann Chir Gynaecol. 1985;74(4):151-154.
17. Maravall FJ, Gomez-Arnaiz N, Guma A, Abos R, Soler J, Gomez JM. Reference values of thyroid volume in a healthy, non-iodine-deficient Spanish population. Horm Metab Res. 2004;36(9):645-649. (Pubitemid 39457643)
18. Zimmermann MB, Hess SY, Molinari L, et al. New reference values for thyroid volume by ultrasound in iodine-sufficient schoolchildren: a World Health Organization/Nutrition for Health and Development Iodine Deficiency Study Group Report. Am J Clin Nutr. 2004;79(2):231-237. (Pubitemid 41095975)
19. Vitti P, Martino E, Aghini-Lombardi F, et al. Thyroid volume measurement by ultrasound in children as a tool for the assessment of mild iodine deficiency. J Clin Endocrinol Metab. 1994;79(2):600-603. (Pubitemid 24256560)
20. Bowen RA, Chan Y, Cohen J, et al. Effect of blood collection tubes on total triiodothyronine and other laboratory assays. Clin Chem. 2005;51(2):424-433. (Pubitemid 40175814)
21. Berrettini S, Neri E, Forli F, et al. Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases. Acta Radiol. 2001;42(3):320-322. (Pubitemid 33655064)
22. Cooper DS, Axelrod L, DeGroot LJ, Vickery ALJ Jr, Maloof F. Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature. J Clin Endocrinol Metab. 1981;52(2):294-306. (Pubitemid 11183628)
23. Camargo R, Limbert E, Gillam M, et al. Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome. Thyroid. 2001;11(10):981-988. (Pubitemid 33020188)
24. Illum P, Kiaer HW, Hvidberg-Hansen J, Sondergaard G. Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. Arch Otolaryngol. 1972;96(4):297-304.
25. Kopp P, Arseven OK, Sabacan L, et al. Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. J Clin Endocrinol Metab. 1999;84(1):336-341. (Pubitemid 29036723)