title: Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child.
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.
authors.affiliation: Department of Pediatrics, Section of Pediatric Endocrinology/Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA. tdnebesi@iupui.edu
authors.forename: Todd D
authors.initials: TD
authors.lastname: Nebesio
authors.forename: Erica A
authors.initials: EA
authors.lastname: Eugster
mesh_terms: D002648:Child; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000473:pathology; D004314:Down Syndrome / Q000150:complications* / Q000473:pathology; D005260:Female; D006111:Graves Disease / Q000209:etiology* / Q000473:pathology; D050031:Hashimoto Disease / Q000209:etiology / Q000473:pathology; D006801:Humans; D007457:Iodine Radioisotopes; D050033:Thyroid Dysgenesis / Q000150:complications* / Q000473:pathology; D013961:Thyroid Gland / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed / Q000379:methods; D018608:Ultrasonography, Doppler
chemical_list: D007457:Iodine Radioisotopes