Turner Sendromlu Çocuklarda Otoimmün Tiroidit Sıklığı

Year 2024, , 190 - 193, 29.08.2024

Atilla Güray Ayşe Şenay Şaşihüseyinoğlu , Rüveyde Bundak

https://doi.org/10.35440/hutfd.1454143

Abstract

Amaç:Turner sendromlu (TS) hastalarda tiroid fonksiyonları, tiroid ultrasonografi (USG) bulgularını değerlendirmek ve otoimmün tiroidit (Hashimoto tiroiditi) sıklığını saptamak.
Materyal ve metod: Turner sendromu tanısı konulan 25 hasta ( yaş ortalaması 16.3±4.44 yıl ) ve 25 sağlıklı kız çocuğu ( yaş ortalaması 16.3±3.66-yıl) kontrol grubu olarak çalışmaya alındı. Her iki grup klinik, sitogenetik özellikleri yönünden değerlendirildi. Çalışmaya alınan tüm çocuklarda tiroid fonkiyon testleri (TFT), otoimmün tiroidite yönelik antitiroglobulin (anti TG) ve tiroid peroksidaz antikorları (anti TPO) ve tiroid USG incelemeleri yapıldı.Test sonuçlarının değerlendirilmesinde Ki-kare, Mann Whitney U, Wilcoxon Rank Sum ve lineer korelasyon testleri kullanıldı.
Bulgular: Yapılan çalışma sonucunda TS tanısı alan 25 hastanın sitogenetik analizinde 13 olguda (% 52) 45,X0 ; 9’unda (%36) olguda X kromozomunda mosaisizm, 3’ünde (%12) X kromozomunda yapısal anomali saptandı.TS’lu hastaların 7’sinde (%28) TFT bozukluğu, otoantikor pozitifliği veya anormal USG bulgularını içeren tiroid patolojisi mevcuttu.Tiroid otoantikor varlığı TS grubunda anlamlı olarak daha yüksekti (p=0.03). Anti TG ve anti TPO pozitifliği 5 hastada (% 20) saptandı. Antikor saptanmayan TS’lu hastalardan sadece 1’inde hipotiroidi mevcuttu. Kontrol grubunda TFT normal sınırlarda idi. TS hastalarında hipotiroidi, kontrol grubuna göre istatiksel olark anlamlı olarak daha fazla idi (p<0. 05). Tiroid antikorları pozitif olan 5 hastanın 3’ünde tiroid USG’de lenfositik tirodit bulguları bulunmaktaydı. Lineer korelasyon ile tiroid antikor pozitifliği ve patolojik USG bulguları değerlendirildiğinde iki parametre arasında anlamlı ilişki saptandı(p<0,05). HT tiroidit ile karyotip arasında anlamlı bir istatiksel ilişki yoktu (p>0,05)
Sonuç:Çalışmamızda elde edilen %20 oranında antitiroid antikor pozitifliği TS ‘da otoimmün tiroidit sıklığının yüksek olduğunu desteklemektedir. Tiroid antikor pozitifliği ve patolojik USG bulguları koreledir.

Keywords

Turner sendromu, otoimmün tiroidit, ultrasonografi

Supporting Institution

Yok

Project Number

59576

Frequency of Autoimmune Thyroiditis in Children With Turner Syndrome

Abstract

Background: To evaluate thyroid functions, thyroid ultrasonography (USG) findings and to determine the frequency of autoimmune thyroiditis (Hashimoto thyroiditis) in patients with Turner syndrome (TS).
Materials and Methods: 25 patients diagnosed with Turner syndrome (mean age 16.3±4.44 years) and 25 healthy girls (mean age 16.3±3.66 years) were included in the study as a control group. Both groups were evaluated in terms of clinical and cytogenetic features. Thyroid function tests (TFT), antithy-roglobulin (anti TG) and thyroid peroxidase antibodies (anti TPO) for autoimmune thyroiditis, and thy-roid USG examinations were performed in all children included in the study. Chi-square, Mann Whitney U, Wilcoxon Rank Sum and linear correlation tests were used to evaluate the test results.
Results: As a result of the study, cytogenetic analysis of 25 patients diagnosed with TS revealed 45,X0 in 13 cases (52%); mosaicism was detected in the X chromosome in 9 (36%) cases, and structural anomaly in the X chromosome was detected in 3 (12%) cases. Seven (28%) of the patients with TS had thyroid pathology including TFT abnormality, autoantibody positivity, or abnormal USG findings. The presence of thyroid autoantibodies was significantly higher in the TS group (p = 0.03). Anti-TG and anti-TPO posi-tivity was detected in 5 patients (20%). Only 1 of the TS patients in whom no antibodies were detected had hypothyroidism. In the control group, TFT was within normal limits. Hypothyroidism was statisti-cally significantly higher in TS patients than in the control group (p<0.05). Three of the 5 patients with positive thyroid antibodies had lymphocytic thyroiditis findings on thyroid USG. The thyroid antibody positivity and pathological USG findings were evaluated with linear correlation, a significant relations-hip was detected between the two parameters (p <0.05). There was no significant statistical relations-hip between HT thyroiditis and karyotype (p>0.05).
Conclusions: The 20% antithyroid antibody positivity rate obtained in our study supports the high frequency of autoimmune thyroiditis in TS. Thyroid antibody positivity and pathological USG findings are correlated.

Project Number

59576

References

• 1. Kyritsi EM, Kanaka-Gantenbein C. Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence. Front Endocrinol (Lausanne). 2020;11:543.
• 2. Bianchi I, Lleo A, Gershwin ME, Invernizzi P. The X chromo-some and immune associated genes. J Autoimmun. 2012;38:187–92.
• 3. Lowenstein EJ, Kim KH, Glick SA. Turner's syndrome in dermatology. J Am Acad Dermatol 2004;50:767–76
• 4. Lleo A, Moroni L, Caliari L, Invernizzi P. Autoimmunity and Turner's syndrome. Autoimmun Rev. 2012;11:538-43.
• 5. Brown RS. Autoimmune thyroiditis in childhood. J Clin Res Pediatr Endocrinol. 2013;5:45–49.
• 6. Akyürek N. Turner sendromu. Chronicles of Precision Medi-cal Researchers. 2022;3:207-9.
• 7. Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for Turner syndrome. Genet Med. 2010;12:52–5.
• 8. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15:601-14.
• 9. De Sanctis V, Khater D. Autoimmune diseases in Turner syndrome: anoverview. Acta Biomed. 2019;90:341–4.
• 10. Kanakatti Shankar R. Immunological Profile and Autoim-munity in Turner Syndrome. Horm Res Paediatr. 2020;93:415-422.
• 11. Mohamed SOO, Elkhidir IHE, Abuzied AIH, Noureddin AAMH, Ibrahim GAA, Mahmoud AAA, et al. Prevalence of autoimmune thyroid diseases among the Turner syndrome patients: meta-analysis of cross sectional studies. BMC Res Notes. 2018;11:842.
• 12. Aversa T, Messina MF, Mazzanti L, Salerno M, Mussa A, Faienza MF, et al. The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype. Endocrine. 2015;50:777–82.
• 13. Chen RM, Zhang Y, Yang XH, Lin XQ, Yuan X. Thyroid Disea-se in Chinese Girls with Turner Syndrome. J. Pedi-atr.Endocrinol. Metab. 2015; 28:201–205
• 14. Witkowska-Sedek E, Borowiec A, Kucharska A, Chacewicz K, Ruminska M, Demkow U, et al. Thyroid Autoimmunity ˙in Girls with Turner Syndrome. Adv. Exp. Med. Biol. 2017;1022: 71–76
• 15. 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 (Basel). 2021;12:222.
• 16. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geff-ner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: procee-dings from the 2016 cincinnati international turner synd-rome meeting. Eur J Endocrinol. 2017;177:1–70
• 17. Vlachopapadopoulou E, Thomas D, Karachaliou F, Chatzi-markou F, Memalai L, Vakaki M, et al: Evolution of sonog-raphic appearance of the thyroid gland in children with Hashimoto’s thyroiditis. J Pediatr Endocrinol Metab. 2009;22:339-44
• 18. Stoklasova J, Zapletalova J, Frysak Z, Hana V, Cap J, Pavli-kova M, et al. An isolated Xp deletion is linked to autoim-mune diseases in Turner syndrome. J Pediatr Endocrinol Metab. 2019;32:479-88.
• 19. Bettendorf M, Doerr HG, Hauffa BP, Lindberg A, Mehls O, Partsch CJ, et al. Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treat-ment. J Pediatr Endocrinol Metab. 2006;19:149-54.
• 20. Wasniewska M, Salerno M, Corrias A, Mazzanti L, Mata-razzo P, Corica D, et al. The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome. Horm Res Paediatr. 2016;86:403-9.
• 21. Hanew K, Tanaka T, Horikawa R, Hasegawa T, Yokoya S. Prevalence of Diverse Complications and Its Association withKaryotypes in Japanese Adult Women with Turner Syndrome-a Questionnaire Survey by the Foundation for Growth Science. Endocr J. 2018: 65: 509–19.