A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: Clinical features and genetic studies

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 1-2, 2013, Pages 119-123

  Hermanns, Pia ^b   Refetoff, Samuel ^c   Sriphrapradang, Chutintorn ^c   Pohlenz, Joachim ^b   Okamato, Jessica ^d   Slyper, Leeyat ^d   Slyper, Arnold H ^a  

^a Department of Pediatrics ^*  (United States)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c UNIVERSITY OF CHICAGO   (United States)

^d LEHIGH VALLEY HOSPITAL   (United States)

Author keywords

Goiter; Thyroglobulin deficiency; Thyroid disease

Indexed keywords

HEMOSIDERIN; IODINE; LEVOTHYROXINE; LIOTHYRONINE; PERCHLORATE; RADIOACTIVE IODINE; THYROGLOBULIN; THYROTROPIN; THYROXINE; THYROXINE BINDING GLOBULIN;

ARTICLE; CASE REPORT; CHILD; COLLOID; ECHOGRAPHY; EQUILIBRIUM DIALYSIS; FEMALE; FINE NEEDLE ASPIRATION BIOPSY; GENE MUTATION; GOITER; HUMAN; LIOTHYRONINE BLOOD LEVEL; MACROPHAGE; OVARY FOLLICLE CELL; PAKISTAN; SCHOOL CHILD; THYROGLOBULIN BLOOD LEVEL; THYROID GLAND; THYROID PARAFOLLICULAR CELL; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GOITER, NODULAR; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; ORGAN SIZE; PEDIGREE; PHENOTYPE; THYROGLOBULIN;

EID: 84878335209     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0287     Document Type: Article

References (26)

1. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr 2011;23:421-8.
2. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379-89. (Pubitemid 40685678)
3. Grasberger H. Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. Mol Cell Endocrinol 2010;322:99-106.
4. Ohye H, Fukata S, Hishinuma A, Kudo T, Nishihara E, et al. A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with a large goiter. Thyroid 2008;18:561-6. (Pubitemid 351667827)
5. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, et al. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypo thyroidism. J Clin Endocrinol Metab 2008;93:605-10. (Pubitemid 351240837)
6. Medeiros-Neto G, Targovnik HM, Vassart G. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 1993;14:165-83. (Pubitemid 23118415)
7. Corral J, Perez R, Martin C, Sanchez I, Mories MT, et al. Thyroglobulin gene point mutation associated with non-endemic simple goiter. Lancet 1993;341:462-4. (Pubitemid 23054521)
8. Perez-Centeno C, Gonzalez-Sarmiento R, Mories MT, Corrales JJ, Miralles-Garcia JM. Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Thyroid 1996;6:423-7. (Pubitemid 26398647)
9. Gonzalez-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel- Velado E, et al. Monoallelic deletion in the 5 ′ region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid 2001;11:789- 93. (Pubitemid 32762719)
10. Kim PS, Kim K-R, Arvan P. Disulfide-linked aggregation of thyroglobulin normally occurs during nascent protein folding. Am J Physiol 1993;265:C704-11.
11. Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Naturally occurring mutations in the thyroglobulin gene. Thyroid 2005;15:1021- 33. (Pubitemid 41475712)
12. Yoshida S, Takamatsu J, Kuma K, Murakami Y, Sakane S, et al. A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. J Clin Endocrinol Metab 1996;81:961- 1966.
13. Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, et al. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. J Clin Endocrinol Metab 2009;94:2938-44.
14. Hishinuma A, Kasai K, Masawa N, Kanno Y, Arimura M, et al. Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. Endocr J 1998;45:315-27. (Pubitemid 128508703)
15. Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, et al. Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. J Clin Endocrinol Metab 2007;92:1451- 7. (Pubitemid 46556425)
16. Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, et al. Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. J Clin Endocrinol Metab 2006;91:3100-4. (Pubitemid 44271763)
17. Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, et al. Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. J Clin Endocrinol Metab 2010;95:1000-6.
18. Anselmo J, Refetoff S. Case history. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid 2004;14:71-4. (Pubitemid 38282940)
19. Alzahrani AS, Baitei EY, Zou M, Shi Y. Metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. J Clin Endocrinol Metab 2006;91:740- 6. (Pubitemid 43357732)
20. Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T. High Incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 2005;15:1079- 84. (Pubitemid 41475720)
21. Medeiros-Neto G, Stanbury JB. Thyroid malignancy and dyshormonogenetic goiter. In: Medeiros-Neto G, Stanbury JB, editors. Inherited disorders of the thyroid system. Boca Raton: CRC Press, 1994:207-18.
22. Rivolta CM, Targovnik HM. Molecular advances in thyroglobulin disorders. Clin Chim Acta 2006;374:8-24. (Pubitemid 44572243)
23. Targovnik HM, Esperante SA, Rivolta CM. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol 2010;322:44-55.
24. Pardo V, Rubio IG, Knobel M, Aguiar-Oliveira MH, Santos MM, et al. Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. Thyroid 2008;18:783- 6. (Pubitemid 352009923)
25. Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, et al. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 1995;80:3356-60.
26. Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, et al. Congenital goiter with hypothyroidism caused by a 5 ′ splice site mutation in the thyroglobulin gene. Thyroid 2001;11:685- 90. (Pubitemid 32701590)