Unusual thyroid constellation in Down syndrome: Congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 3, 2009, Pages 263-268

  Nebesio, Todd D ^a   Eugster, Erica A ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital hypothyroidism; Down syndrome; Graves' disease; Thyroid hemiagenesis

Indexed keywords

LEVOTHYROXINE; RADIOACTIVE IODINE; THYROID HORMONE; THYROTROPIN; THYROTROPIN RECEPTOR ANTIBODY; THYROXINE;

ANAMNESIS; ANTIBODY DETECTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISEASE ASSOCIATION; DOWN SYNDROME; DRUG DOSE REDUCTION; FEMALE; GRAVES DISEASE; HORMONE SUBSTITUTION; HUMAN; HYPERTHYROIDISM; SCHOOL CHILD; THYROID DYSGENESIS; THYROID FUNCTION TEST; THYROID SCINTISCANNING; THYROXINE BLOOD LEVEL; TREATMENT RESPONSE; TRISOMY 21;

EID: 65349104004     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2009.22.3.263     Document Type: Article

References (41)

1. Fort P, Lifshitz F, Bellisario R, et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 1984; 104: 545-549.
2. Prasher VP. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract 1999; 6: 25-42.
3. Van Vliet G. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin Genet 2003; 63: 445-455.
4. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005; 42: 379-389.
5. Rajmil HO, Rodriguez-Espinosa J, Soldevila J, Ordonez-Llanos J. Thyroid hemiagenesis in two sisters. J Endocrinol Invest 1984; 7: 393-394.
6. McLean R, Howard N, Murray IP. Thyroid dysgenesis in monozygotic twins: variants identified by scintigraphy. Eur J Nucl Med 1985; 10: 346-348.
7. Leger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, Czernichow P. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002; 87: 575-580.
8. Shabana W, Delange F, Freson M, Osteaux M, De Schepper J. Prevalence of thyroid hemiagenesis: ultrasound screening in normal children. Eur J Pediatr 2000; 159: 456-458.
9. Maiorana R, Carta A, Floriddia G, et al. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab 2003; 88: 1534-1536.
10. Melnick JC, Stemkowski PE. Thyroid hemiagenesis (hockey stick sign): a review of the world literature and a report of four cases. J Clin Endocrinol Metab 1981; 52: 247-251.
11. Harada T, Nishikawa Y, Ito K. Aplasia of one thyroid lobe. Am J Surg 1972; 124: 617-619.
12. Mikosch P, Gallowitsch HJ, Kresnik E, Lind P. Thyroid hemiagenesis with Graves' disease. Nuklearmedizin 1999; 38: 35-37.
13. Mirouze J, Jaffol C, Seignalet J, Pastorello R, Baldet L. A differential diagnosis: toxic adenoma or partial thyroid agenesis with Basedow's disease of the remaining lobe. Rev Fr Endocrinol Clin 1967; 8: 161-164.
14. Friedman A, Bauman A. Hemiagenesis of the thyroid. South Med J 1979; 72: 927-929.
15. Ruchala M, Szczepanek E, Skiba A, Czepczynski R, Sowinski J. Graves' hyperthyroidism following primary hypothyroidism due to Hashimoto's thyroiditis in a case of thyroid hemiagenesis: case report. Neuro Endocrinol Lett 2008; 29: 55-58.
16. Ozaki O, Ito K, Mimura T, et al. Hemiaplasia of the thyroid associated with Graves' disease: report of three cases and a review of the literature. Surg Today 1994; 24: 164-169.
17. Hervas Benito I, Vera Espallardo F, Rivas Sanchez A, et al. Association of thyroid hemiagenesis and Graves disease. Rev Esp Med Nucl 2001; 20: 116-119.
18. Lee IT, Sheu WH, Lin SY. Familial form of thyroid dysgenesis: report of thyroid hemiagenesis with accompanying Graves' disease in a woman whose daughter has thyroid agenesis. Horm Res 2003; 59: 47-49.
19. Bando Y, Nagal Y, Ushiogi Y, Toya D, Tanaka N, Fujisawa M. Development of Graves' hyperthyroidism from primary hypothyroidism in a case of thyroid hemiagenesis. Thyroid 1999; 9: 183-187.
20. Burman KD, Adler RA, Wartofsky L. Hemiagenesis of the thyroid gland. Am J Med 1975; 58: 143-146.
21. Baldini M, Orsatti A, Cantalamessa L. A singular case of Graves' disease in congenital thyroid hemiagenesis. Horm Res 2005; 63: 107-110.
22. Matsumura LK, Russo EM, Dib SA, Maciel RM, Chacra AR. Herniagenesis of the thyroid gland and T3 hyperthyroidism. Postgrad Med J 1982; 58: 244-246.
23. Shechner C, Kraiem Z, Zuckerman E, Dickstein G. Toxic Graves' disease with thyroid hemiagenesis: diagnosis using thyroid-stimulating immunoglobulin measurements. Thyroid 1992; 2: 133-135.
24. Veliz J, Pineda G. Thyroid hemiagenesis associated with Basedow-Graves disease. Report of a case, Rev Med Chil 2000; 128: 896-898.
25. Levy EG. Graves' disease in a patient with thyroid hemiagenesis. Thyroidology 1989; 1: 49-50.
26. McHenry CR, Walfish PG, Rosen IB, Lawrence AN, Paloyan E. Congenital thyroid hemiagenesis. Am Surg 1995; 61: 634-638.
27. Zangeneh F, Miller JL, Intenzo CM. Thyroid gland hemiagenesis with Graves' disease. Thyroid 2001; 11: 603.
28. Rashid HI, Yassin J, Owen WJ. A case of Graves' disease in association with hemiagenesis of the thyroid gland. Int J Clin Pract 1998; 52: 515-516.
29. Ozgen AG, Saygili F, Kabalak T. Thyroid hemiagenesis associated with Graves' disease and Graves' ophthalmopathy: case report. Thyroid 2004; 14: 75-77.
30. Sasaki H, Futata T, Ninomiya H, Higashi Y, Okumura M. CT and MR imagings of single thyroid lobe (thyroid hemiagenesis) with Graves' disease. Postgrad Med J 1991; 67: 701.
31. Mortimer PS, Tomlinson IW, Rosenthal FD. Hemiaplasia of the thyroid with thyrotoxicosis. J Clin Endocrinol Metab 1981; 52: 152-155.
32. Kreisner E, Camargo-Neto E, Maia CR, Gross JL. Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent congenital hypothyroidism. Clin Endocrinol (Oxf) 2003; 59: 361-365.
33. Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 2004; 144: 643-647.
34. Tuysuz B, Beker DB. Thyroid dysfunction in children with Down's syndrome. Acta Paediatr 2001; 90: 1389-1393.
35. Selikowitz M. A five-year longitudinal study of thyroid. function in children with Down syndrome. Dev Med Child Neurol 1993; 35: 396-401.
36. Gibson PA, Newton RW, Selby K, Price DA, Leyland K, Addison GM. Longitudinal study of thyroid function in Down's syndrome in the first two decades. Arch Dis Child 2005; 90: 574-578.
37. Sharav T, Landau H, Zadik Z, Einarson TR. Age-related patterns of thyroid-stimulating hormone response to thyrotropin-releasing stimulation in Down syndrome. Am J Dis Child 1991; 145: 172-175.
38. Oliveira AT, Longui CA, Calliari EP, Ferone Ede A, Kawaguti FS, Monte 0. Evaluation of the hypothalamic-pituitary-thyroid axis in children with Down syndrome. J Pediatr (Rio J) 2002; 78: 295-300.
39. Loudon MM, Day RE, Duke EM. Thyroid dysfunction in Down's syndrome. Arch Dis Child 1985; 60: 1149-1151.
40. Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 1998; 79: 242-245.
41. American Academy of Pediatrics. Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2001; 107: 442-449.