Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age
Abstract
:1. Introduction
1.1. Genetic Susceptibility in Autoimmune Thyroid Diseases
1.2. Autoimmune Thyroid Diseases in Pediatric General Population
2. Materials and Methods
3. Results
4. Discussion
4.1. Autoimmune Thyroid Diseases and Chromosomopathies
4.1.1. Turner Syndrome
4.1.2. Down Syndrome
4.1.3. Klinefelter Syndrome
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- Endocrine organ-specific autoantibodies can be detected in 13% of KS subjects; the frequency progressively increases in those with higher-grade aneuploidies and is higher in children than in adults.
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- The influence of sex hormones as modulators of the immune response and X-linked gene dosage has been implicated in the pathogenesis of autoimmunity in KS.
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- In KS patients, measurement of TSH and free T4 (fT4) levels at diagnosis and annually thereafter is suggested.
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- Screening for thyroid autoantibodies should be considered in KS cases with TSH elevation and/or the presence of goiter or periodically in the absence of suggestive clinical or biochemical signs.
4.2. Autoimmune Thyroid Diseases and Deletion Syndromes
4.2.1. Williams Syndrome
4.2.2. 22q11.2 Deletion Syndrome
4.2.3. 18q Deletion Syndrome
4.3. Autoimmune Thyroid Diseases and Imprinting Disorders
Prader–Willi Syndrome
4.4. Autoimmune Thyroid Diseases and RASopathies
Neurofibromatosis Type 1 and Noonan Syndrome
4.5. Other Syndromes
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Authors, Years | TS Population (n) | TS Population Age Range or Mean (y) | HT Prevalence (%) | GD Prevalence (%) | Autoimmune Associated Disease and Prevalence (%) | Association with AITDs and Specific Karyotype |
---|---|---|---|---|---|---|
Stoklasova et al., 2019 [33] | 286 | 2.8–43.3 | NA | NA | 8.7% CD, 2.1% V, 1.4% AA, 1.4% P, 0.7% IBD | Yes (Xp deletion/triple X mosaicism) |
Witkowska-Sędek et al., 2017 [45] | 41 | 6–18 | 19.5% | NA | NA | No |
Chen et al., 2015 [78] | 69 | 0.2–18 | 10% | 4.3% | DMT1 | No |
Valenzise et al., 2014 [89] | 408 | 1–40 | NA | 1.7% | DMT1, CD | No |
Grossi et al., 2013 [100] | 66 | 1–29.8 | 21% | 0 | 3% CD, 1.5% AA, 1.5% DMT1, 1.5% V, | Yes (isoXq) |
Hamza et al., 2013 [122] | 80 | 4.7–22.3 | 6.3% | 1.3% | 12.5% CD, 3.75% anti-GAD-65, 1.25% ACA | Yes (IsoXq) |
Kucharska et al., 2013 [36] | 54 | 1–18 | 20% | 0 | NA | NA |
Gawlik et al., 2011 [37] | 86 | 0–17.4 | 17% | 0 | NA | No |
Fukuda et al., 2009 [39] | 65 | 15–61 | 31% | 4.6% | NA | No |
Medeiros et al., 2009 [40] | 17 | 5.9–22.6 | 23.5% | 5.8% | NA | NA |
Mortensen et al., 2009 [41] | 107 | 6–60 | 15% | 1.8% | 18% CD, 4% anti-GAD-65 | Only for anti-GAD-65 and isoXq |
Bettendorf et al., 2006 [42] | 120 | >16 | 26% | 0 | CD | No |
Livadas et al., 2005 [43] | 84 | 0.5–19 | 21% | 2.5% | NA | No |
El-Mansoury et al., 2005 [44] | 91 | 16–71 | 25% | 2% | NA | No |
Elsheikh et al., 2001 [46] | 145 | 16–52 | 15% | 0.7% | NA | Yes (isoXq) |
Medeiros et al., 2000 [48] | 71 | 0–19.9 | 9.8% | NA | NA | No |
Hanew et al., 2018 [55] | 492 | 17-42 | 25.2% | 1.8% | 1.8% IBD | No |
Gawlik et al., 2018 [59] | 37 | 6.3–19.9 | NA | NA | CD, V | Yes (isoXq) |
Yeşilkaya et al., 2015 [63] | 842 | 0–18 | 11.1% | 0.4% | NA | Yes (isoXq) |
Wegiel et al., 2019 [57] | 134 | 0.4–17 | 14.9% | 0 | 1.5% P, 2.2% V, 0.7% AA, 0.7% LS, 2.7% CD, 1.5% DMT1 | No |
Syndrome | HT Prevalence (%) | GD Prevalence (%) | Studies Considered (n) |
---|---|---|---|
Turner Syndrome | 6.3–31% | 0.4–5.8% | 18 [*] |
Down Syndrome | 1.4–52.6% | 0.7–5.2% | 9 [**] |
Prader–Willi Syndrome | sporadic | ND | 1 [117] |
22q11.2 Deletion Syndrome | 1.6% | 1.6% | 1 [105] |
Williams Syndrome | ND | ND | 1 [104] |
RASopathies | 7% | ND | 1 [120] |
Klinefelter Syndrome | 7% | ND | 1 [102] |
Neurofibromatosis Type 1 | 2.5% | ND | 1 [118] |
Author, Year | DS Population (n) | DS Population Age Range or Mean (y) | HT Prevalence (%) | GD Prevalence (%) | Autoimmune-Associated Diseases and Prevalence (%) |
---|---|---|---|---|---|
Pepe et al., 2020 [65] | 101 | 2–17 | 36.6% | NA | 4% CD, 2% DMT1, 1% V |
Zwaveling-Soonawala et al., 2017 [88] | 123 | 10.7 (mean) | 21.9% | 0.7% | 4% CD |
Aversa et al., 2016 [70] | 174 | 1–18 | NA | NA | 14.3% CD, 4% DMT1, 27% AA, 13% V |
Giménez-Barcons et al., 2014 [73] | 19 | 0–10 | 52.6% | 5.2% | 5.2% CD |
Pellegrini et al., 2012 [74] | 29 | 1.4–22.8 | 17.2% | 3.4% | 3.5% V, 10.5% CD |
Unachak et al., 2008 [82] | 140 | 0-14 | 1.4% | 1.4% | NA |
Soderbergh et al., 2006 [83] | 48 | 11–56 | 18.7% | 0 | 4% CD, 4% AA, 12.5% APS1 related antibodies |
Pierce et al., 2017 [69] | 508 | 0.05–26 | 5.1% | 1.6% | 3.7% CD, 0.8% DMT1 |
Gruñeiro de Papendieck et al., 2002 [85] | 137 | 0.04–16 | 15.3% | 2.9% | NA |
AlAaraj et al., 2019 [66] | 102 | 2.3 ± 3 (mean) | NA | NA | 1.96% DMT1 |
Abdulrazzaq et al., 2018 [68] | 92 | <18 | 14.1% | NA | 4.3% DMT1, 1.1% CD |
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Casto, C.; Pepe, G.; Li Pomi, A.; Corica, D.; Aversa, T.; Wasniewska, M. Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age. Genes 2021, 12, 222. https://doi.org/10.3390/genes12020222
Casto C, Pepe G, Li Pomi A, Corica D, Aversa T, Wasniewska M. Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age. Genes. 2021; 12(2):222. https://doi.org/10.3390/genes12020222
Chicago/Turabian StyleCasto, Celeste, Giorgia Pepe, Alessandra Li Pomi, Domenico Corica, Tommaso Aversa, and Malgorzata Wasniewska. 2021. "Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age" Genes 12, no. 2: 222. https://doi.org/10.3390/genes12020222