Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age
Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis (HT) and Graves' 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 sy...
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| Veröffentlicht in: | Genes 2021-02, Vol.12 (2), p.222 |
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| creator | Casto, Celeste Pepe, Giorgia Li Pomi, Alessandra Corica, Domenico Aversa, Tommaso Wasniewska, Malgorzata |
| description | Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis (HT) and Graves' 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-Willi 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. |
| doi_str_mv | 10.3390/genes12020222 |
| format | Article |
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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-Willi 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.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes12020222</identifier><identifier>PMID: 33557156</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adolescents ; Age ; Antigen presentation ; Autoimmune diseases ; Autoimmunity ; Children ; Clinical trials ; Cognitive ability ; Down syndrome ; Down's syndrome ; Epidemiology ; Genes ; Genetic disorders ; Graves' disease ; Hyperthyroidism ; Hypothyroidism ; Klinefelter's syndrome ; Literature reviews ; Neurofibromatosis ; Noonan's syndrome ; Pediatrics ; Peptides ; Population ; Prader-Willi syndrome ; Prenatal diagnosis ; Recklinghausen's disease ; Review ; Systematic review ; Teenagers ; Thyroid diseases ; Thyroiditis ; Turner's syndrome ; Williams syndrome ; X chromosomes</subject><ispartof>Genes, 2021-02, Vol.12 (2), p.222</ispartof><rights>2021. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). 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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.</description><subject>Adolescents</subject><subject>Age</subject><subject>Antigen presentation</subject><subject>Autoimmune diseases</subject><subject>Autoimmunity</subject><subject>Children</subject><subject>Clinical trials</subject><subject>Cognitive ability</subject><subject>Down syndrome</subject><subject>Down's syndrome</subject><subject>Epidemiology</subject><subject>Genes</subject><subject>Genetic disorders</subject><subject>Graves' disease</subject><subject>Hyperthyroidism</subject><subject>Hypothyroidism</subject><subject>Klinefelter's syndrome</subject><subject>Literature reviews</subject><subject>Neurofibromatosis</subject><subject>Noonan's syndrome</subject><subject>Pediatrics</subject><subject>Peptides</subject><subject>Population</subject><subject>Prader-Willi syndrome</subject><subject>Prenatal diagnosis</subject><subject>Recklinghausen's disease</subject><subject>Review</subject><subject>Systematic review</subject><subject>Teenagers</subject><subject>Thyroid diseases</subject><subject>Thyroiditis</subject><subject>Turner's syndrome</subject><subject>Williams syndrome</subject><subject>X chromosomes</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kU1PAyEQhonR2Kb26NVs4qFeVvlYFvZi0lStJiZq7J3QZbbFdJcK2yb999JUm-pBOADDw8u8MwidE3zNWIFvZtBAIBTHSekR6lIsWJpllB8f7DuoH8IHjiOLIOanqMMY54LwvIveHnWY29q1bhCSyXzjnTW2tSHRjUnGXq8hDJI7G0AHSGyTjOOPrS2T901jvKshbIOvYKxufQwPZ3CGTiq9CND_Xnto8nA_GT2mzy_jp9HwOS05LtrUmKqMHiSbsphYQYUsICt5LqCKJzKlIq80riSRVWawJJQYKTE3Jo--4sseut3JLlfTGkwJTev1Qi29rbXfKKet-n3T2LmaubUSBWEFEVHg6lvAu88VhFbVNpSwWOgG3CoomkkhMl4wGdHLP-iHW_kmulN0W8hcxPL_S0WtLCcEb_NOd1TpXQgeqn3KBKttU9Wvpkb-4tDnnv5pIfsCJPibWg</recordid><startdate>20210204</startdate><enddate>20210204</enddate><creator>Casto, Celeste</creator><creator>Pepe, Giorgia</creator><creator>Li Pomi, Alessandra</creator><creator>Corica, Domenico</creator><creator>Aversa, Tommaso</creator><creator>Wasniewska, Malgorzata</creator><general>MDPI AG</general><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8299-2677</orcidid><orcidid>https://orcid.org/0000-0002-3628-1612</orcidid><orcidid>https://orcid.org/0000-0003-1130-829X</orcidid><orcidid>https://orcid.org/0000-0002-1754-6822</orcidid></search><sort><creationdate>20210204</creationdate><title>Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age</title><author>Casto, Celeste ; 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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-Willi 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.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>33557156</pmid><doi>10.3390/genes12020222</doi><orcidid>https://orcid.org/0000-0002-8299-2677</orcidid><orcidid>https://orcid.org/0000-0002-3628-1612</orcidid><orcidid>https://orcid.org/0000-0003-1130-829X</orcidid><orcidid>https://orcid.org/0000-0002-1754-6822</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Adolescents Age Antigen presentation Autoimmune diseases Autoimmunity Children Clinical trials Cognitive ability Down syndrome Down's syndrome Epidemiology Genes Genetic disorders Graves' disease Hyperthyroidism Hypothyroidism Klinefelter's syndrome Literature reviews Neurofibromatosis Noonan's syndrome Pediatrics Peptides Population Prader-Willi syndrome Prenatal diagnosis Recklinghausen's disease Review Systematic review Teenagers Thyroid diseases Thyroiditis Turner's syndrome Williams syndrome X chromosomes |
| title | Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age |
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