{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T16:09:47Z","timestamp":1792253387443,"version":"4.4.0"},"reference-count":27,"publisher":"Bioscientifica","issue":"6","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4,24]]},"abstract":"<jats:p>\n                    While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves\u2019 disease (GD) is rare (ranges 0.6\u20133%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 female, 5 male) had DS (8%). Data were collected retrospectively from patients\u2019 medical records. The mean age at diagnosis was 10.6 \u00b1 4.5 years, with a female-to-male ratio 1.6:1. The main symptoms were weight loss (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20096), increased irritability (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093), and increased sweating (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093). None had orbitopathy. Seven of 11 patients with a thyroid ultrasound at diagnosis had a goitre. On admission, all had thyroid-stimulating hormone (TSH) &lt;0.01 mU\/L (normal range (NR): 0.51\u20134.30), free triiodothyronine, free thyroxine (mean \u00b1\n                    <jats:sc>s.d<\/jats:sc>\n                    <jats:sc>.<\/jats:sc>\n                    ), and thyrotrophin receptor antibodies (median, range) were 22.2 \u00b1 10.2 pmol\/L (NR: 3.5\u20138.1), 50.2 \u00b1 18.7 pmol\/L (NR 12.6\u201320.9), and 17.0 (2.89\u2013159.0) U\/L (NR &lt;1), respectively. Patients were treated either with methimazole (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200910) or carbimazole (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093), a dose of 0.54 \u00b1 0.36 mg\/kg\/day. The treatment was \u2018block and replace\u2019 in ten patients and \u2018dose titration\u2019 in three patients, with a mean duration of 43.4 \u00b1 11.0 months. Of 13 patients, four are still receiving primary treatment, three are in remission, one patient had two medically treated recurrences, three underwent surgery without complications, and two patients were lost to follow-up. Our data show that the clinical course of GD in patients with DS was similar to those without DS and suggest that a prolonged medical therapy should be the preferred option.\n                  <\/jats:p>","DOI":"10.1530\/ec-24-0032","type":"journal-article","created":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T12:18:52Z","timestamp":1713961132000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":4,"title":["Graves\u2019 disease in children with Down syndrome"],"prefix":"10.1530","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8129-9056","authenticated-orcid":true,"given":"Ayse","family":"Nurcan Cebeci","sequence":"first","affiliation":[{"name":"Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Schempp","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, University Hospital, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"F\u00f6rtsch","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, University Hospital, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Gohlke","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, University Hospital, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Marx","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmuth-Guenther","family":"D\u00f6rr","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Woelfle","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3408","article-title":"Approach to the patient: management and the long-term consequences of Graves\u2019 disease in children","volume":"107","author":"Rivkees","year":"2022","unstructured":"Rivkees SA. Approach to the patient: management and the long-term consequences of Graves\u2019 disease in children. Journal of Clinical Endocrinology and Metabolism20221073408\u20133417. (https:\/\/doi.org\/10.1210\/clinem\/dgac573)"},{"key":"bib2","series-title":"Birth Defects Research Part A, Clinical and Molecular Teratology","first-page":"747","article-title":"National estimates and race\/ethnic-specific variation of selected birth defects in the United States, 1999\u20132001","volume":"76","author":"Canfield","year":"2006","unstructured":"Canfield MAHonein MAYuskiv NXing JMai CTCollins JSDevine OPetrini JRamadhani TAHobbs CA, et al.National estimates and race\/ethnic-specific variation of selected birth defects in the United States, 1999\u20132001. Birth Defects Research Part A, Clinical and Molecular Teratology200676747\u2013756. 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