{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T19:25:12Z","timestamp":1778095512036,"version":"3.51.4"},"reference-count":180,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T00:00:00Z","timestamp":1612396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autoimmune thyroid diseases (AITDs), including Hashimoto\u2019s thyroiditis (HT) and Graves\u2019 disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader\u2013Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.<\/jats:p>","DOI":"10.3390\/genes12020222","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T12:02:10Z","timestamp":1612440130000},"page":"222","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Hashimoto\u2019s Thyroiditis and Graves\u2019 Disease in Genetic Syndromes in Pediatric Age"],"prefix":"10.3390","volume":"12","author":[{"given":"Celeste","family":"Casto","sequence":"first","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1130-829X","authenticated-orcid":false,"given":"Giorgia","family":"Pepe","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Li Pomi","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3628-1612","authenticated-orcid":false,"given":"Domenico","family":"Corica","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-6822","authenticated-orcid":false,"given":"Tommaso","family":"Aversa","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8299-2677","authenticated-orcid":false,"given":"Malgorzata","family":"Wasniewska","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/clin.1997.4412","article-title":"Epidemiology and Estimated Population Burden of Selected Autoimmune Diseases in the United States","volume":"84","author":"Jacobson","year":"1997","journal-title":"Clin. 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