{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:56:20Z","timestamp":1762642580872,"version":"3.44.0"},"reference-count":15,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,29]]},"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>Down syndrome (DS) is associated with an increased risk of multisystemic dysfunction, namely endocrine abnormalities. Thyroid dysfunction is the most common endocrinological disorder, and it can manifest as either hypothyroidism or hyperthyroidism. A 16-year-old patient with DS developed hyperthyroidism after a lifetime of alternating between subclinical hypothyroidism and euthyroidism. He presented new onset weight loss, agitation and diarrhoea. Laboratory studies were compatible with hyperthyroidism. Thyroid receptor antibodies (TRAbs) were positive, antithyroid peroxidase antibodies and thyroglobulin antibodies were negative. Antithyroid medication (methimazole) was prescribed and, despite therapy adjustments, laboratory evaluation revealed new onset hypothyroidism with persistently positive TRAbs. He experienced weight gain and remained in a hypothyroid state even with withdrawal of methimazole and administration of levothyroxine. This case illustrates an example of Graves\u2019 disease with coexisting stimulating and inhibiting TRAbs that led to a shift from hyperthyroidism to hypothyroidism, a rare condition in patients with DS.<\/jats:p>","DOI":"10.1136\/bcr-2021-242612","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T11:35:21Z","timestamp":1631532921000},"page":"e242612","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Graves\u2019 disease in a patient with Down syndrome: a shift from hyperthyroidism to hypothyroidism"],"prefix":"10.1136","volume":"14","author":[{"given":"Sara Todo Bom","family":"Costa","sequence":"first","affiliation":[{"name":"Pediatrics Deparment\u2014HVFX, CUF, Jos\u00e9 Mello Saude Group, CUF, Carnaxide, Portugal"},{"name":"Pediatrics Department, Santa Maria Hospital, Northern Lisbon University Hospital Centre, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Albino","sequence":"additional","affiliation":[{"name":"Pediatrics Deparment\u2014HVFX, CUF, Jos\u00e9 Mello Saude Group, CUF, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Peres","sequence":"additional","affiliation":[{"name":"Pediatrics Deparment\u2014HVFX, CUF, Jos\u00e9 Mello Saude Group, CUF, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Pediatrics Deparment\u2014HVFX, CUF, Jos\u00e9 Mello Saude Group, CUF, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,9,13]]},"reference":[{"key":"2025082801025855000_14.9.e242612.1","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1159\/000457952","article-title":"Characterization of thyroid abnormalities in a large cohort of children with down syndrome","volume":"87","author":"Pierce","year":"2017","journal-title":"Horm Res Paediatr"},{"key":"2025082801025855000_14.9.e242612.2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-1605"},{"key":"2025082801025855000_14.9.e242612.3","doi-asserted-by":"publisher","DOI":"10.23750\/abm.v89i1.7120"},{"key":"2025082801025855000_14.9.e242612.4","unstructured":"Huang SA , LaFranchi SH . Graves\u2019 disease. In: Kliegman RM , Stanton BF , JW SGIII , et al , eds. Nelson textbook of pediatrics. 20 edn. Philadelphia: Elsevier Inc, 2016: 2681\u20134."},{"key":"2025082801025855000_14.9.e242612.5","doi-asserted-by":"publisher","DOI":"10.1530\/EC-18-0082"},{"key":"2025082801025855000_14.9.e242612.6","doi-asserted-by":"crossref","DOI":"10.1186\/s13052-015-0146-2","article-title":"Peculiarities of autoimmune thyroid diseases in children with turner or own syndrome: an overview","volume":"41","author":"Aversa","year":"2015","journal-title":"Ital J Pediatr"},{"key":"2025082801025855000_14.9.e242612.7","doi-asserted-by":"crossref","DOI":"10.1186\/1687-9856-2014-10","article-title":"Pediatric graves' disease: management in the post-propylthiouracil era","volume":"2014","author":"Rivkees","year":"2014","journal-title":"Int J Pediatr Endocrinol"},{"key":"2025082801025855000_14.9.e242612.8","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1002\/ccr3.1700","article-title":"Alternating hyperthyroidism and hypothyroidism in graves' disease","volume":"6","author":"Wong","year":"2018","journal-title":"Clin Case Rep"},{"key":"2025082801025855000_14.9.e242612.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03419.x"},{"key":"2025082801025855000_14.9.e242612.10","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2012.0374"},{"key":"2025082801025855000_14.9.e242612.11","doi-asserted-by":"crossref","first-page":"25734","DOI":"10.3402\/jchimp.v4.25734","article-title":"Oscillating hypothyroidism and hyperthyroidism - a case-based review","volume":"4","author":"Fan","year":"2014","journal-title":"J Community Hosp Intern Med Perspect"},{"key":"2025082801025855000_14.9.e242612.12","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-69-1-49"},{"key":"2025082801025855000_14.9.e242612.13","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1507\/endocrj1954.35.379","article-title":"A patient with graves' disease who developed hypothyroidism associated with thyroid stimulation blocking immunoglobulin during anti-thyroid drug therapy","volume":"35","author":"Inomata","year":"1988","journal-title":"Endocrinol Jpn"},{"key":"2025082801025855000_14.9.e242612.14","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2020.00543","article-title":"Autoimmune thyroid disease in specific genetic syndromes in childhood and adolescence","volume":"11","author":"Kyritsi","year":"2020","journal-title":"Front Endocrinol"},{"key":"2025082801025855000_14.9.e242612.15","first-page":"1","article-title":"Antithyroid drug therapy for graves' disease and implications for recurrence","volume":"2017","author":"Liu","year":"2017","journal-title":"Int J Endocrinol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242612","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:03:08Z","timestamp":1756368188000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":15,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9,13]]},"published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1136\/bcr-2021-242612"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242612","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,9]]}}}