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Case Reports
. 2009 Mar;22(3):263-8.
doi: 10.1515/jpem.2009.22.3.263.

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

Todd D Nebesio  1 , Erica A Eugster
Affiliations
Case Reports

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

Todd D Nebesio et al. J Pediatr Endocrinol Metab. 2009 Mar.

Abstract

We report a girl with Down syndrome who was diagnosed with congenital hypothyroidism in the newborn period due to left thyroid hemiagenesis. Unexpectedly, her hypothyroidism resolved at the age of 3 years. After being off thyroid hormone replacement for 7 years and having normal thyroid function, she developed Graves' disease. Although Graves' disease in association with thyroid hemiagenesis has previously been reported, this represents the youngest patient in whom this scenario has been described. Issues pertaining to thyroid hemiagenesis, autoimmune hyperthyroidism, and thyroid disease in children with Down's syndrome are discussed.

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Figures

Fig. 1
Fig. 1
123I thyroid uptake and scan. 24-hour radioiodine uptake was elevated at 39%. The left lobe of the thyroid is absent.
Fig. 2
Fig. 2
Doppler ultrasonographic image. There is diffuse hypervascularity of the right lobe and isthmus.
See this image and copyright information in PMC

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References

    1. Fort P, Lifshitz F, Bellisario R, et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr. 1984;104:545–549. - PubMed
    1. Prasher VP. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract. 1999;6:25–42. - PubMed
    1. Van Vliet G. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin Genet. 2003;63:445–455. - PubMed
    1. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005;42:379–389. - PMC - PubMed
    1. Rajmil HO, Rodriguez-Espinosa J, Soldevila J, Ordonez-Llanos J. Thyroid hemiagenesis in two sisters. J Endocrinol Invest. 1984;7:393–394. - PubMed

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