Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 8, 1999, Pages 2736-2738

  Vaidya, Bijayeswar ^a,e   Coffey, Rebecca ^b   Coyle, Beth ^c   Trembath, Richard ^c   San Lazaro, Camille ^d   Reardon, William ^b   Kendall Taylor, Pat ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PERCHLORATE; THYROGLOBULIN ANTIBODY; THYROID ANTIBODY; THYROXINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CASE REPORT; CHROMOSOME 7Q; CLINICAL FEATURE; DIAGNOSTIC ERROR; DISEASE ASSOCIATION; FEMALE; GENE LOCATION; GENE MUTATION; GOITER; HASHIMOTO DISEASE; HUMAN; KARYOTYPE; MALE; PEDIGREE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; THYROID FUNCTION TEST;

EID: 0033344689     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.84.8.5903     Document Type: Article

References (24)

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4. Fifteen cases of Pendred's syndrome
5. Pendred syndrome - 100 years of underascertainment?
6. Thyroid function in patients with Pendred syndrome
7. The inner ear in Pendred's syndrome
8. Pendred syndrome-acoustic, vestibular and radiological findings in 17 unrelated patients
9. Radiological malformations of the ear in Pendred syndrome
10. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
11. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid organification
12. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
13. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
14. Two frequent missense mutations in Pendred syndrome
15. The spectrum of thyroid disease in a community: The Whickham survey
16. Typical and atypical cases of Pendred's syndrome in one family
17. When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred syndrome
18. Pitfalls in practice - Diagnosis and misdiagnosis in Pendred syndrome
19. The variable intrafamiliar expressivity in Pendred's syndrome
20. Pendred's syndrome: A study of patients and relatives
21. Familial studies of autoimmune thyroiditis
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23. Significance of iodide-perchlorate discharge test for detection of iodine organification defect of the thyroid
24. Prevalence of low titer and 'negative' anti-thyroglobulin antibodies in biopsy-proved juvenile Hashimoto's thyroidiris