Abstract
Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6–18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.
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Aversa T, Messina MF, Mazzanti L, Salerno M, Mussa A, Faienza MF, Scarano E, De Luca F, Wasniewska M (2015) The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype. Endocrine 50:777–782
Bonamico M, Pasquino AM, Mariani P, Danesi HM, Culasso F, Mazzanti L, Petri A, Bona G (2002) Prevalence and clinical picture of celiac disease in Turner syndrome. J Clin Endocrinol Metab 87:5495–5498
Chiovato L, Larizza D, Bendinelli G, Tonacchera M, Marinó M, Mammoli C, Lorini R, Severi F, Pinchera A (1996) Autoimmune hypothyroidism and hyperthyroidism in patients with Turner syndrome. Eur J Endocrinol 134:568–575
El-Mansoury M, Bryman I, Berntorp K, Hanson C, Wilhelmsen L, Landin-Wilhelmsen K (2005) Hypothyroidism is common in Turner syndrome: results of a five-year follow-up. J Clin Endocrinol Metab 90(4):2131–2135
Elsheikh M, Wass JA, Conway GS (2001) Autoimmune thyroid syndrome in women with Turner syndrome – the association with karyotype. Clin Endocrinol 55:223–226
Gawlik A, Gawlik T, Januszek-Trzciakowska A, Patel H, Małecka-Tendera E (2011) Incidence and dynamics of thyroid dysfunction and thyroid autoimmunity in girls with Turner’s syndrome: a long-term follow-up study. Horm Res Paediatr 76:314–320
Gravholt CH (2004) Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 151:657–687
Grossi A, Palma A, Zanni G, Novelli A, Loddo S, Cappa M, Fierabracci A (2013) Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. Gene 515:439–443
Hyodo H, Tomita Y, Hirai K, Hirakawa H, Ueno S, Ishiguro H (2009) Turner syndrome with Ulcerative Colitis. Clin Pediatr Endocrinol 18(4):101–105
Invernizzi P, Pasini S, Selmi C, Gershwin ME, Podda M (2009) Female predominance and X chromosome defects in autoimmune diseases. J Autoimmun 33:12–16
Jorgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M (2010) Autoimmune diseases in women with Turner syndrome. Arthritis Rheum 62:658–666
Kucharska AM (2014) Sex and autoimmune thyroid diseases. Pediatr Endocrinol 2(47):57–64
Larizza D, Calcaterra V, Martinetti M (2009) Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. J Autoimmun 33:25–30
Lleo A, Moroni L, Caliari L, Invernizzi P (2012) Autoimmunity and Turner syndrome. Autoimmun Rev 11:A538–A543
Lowenstein EJ, Kim KH, Glick SA (2004) Turner syndrome in dermatology. J Am Acad Dermatol 50:767–776
McCarthy K, Bondy CA (2008) Turner syndrome in childhood and adolescence. Expert Rev Endocrinol Metab 3:771–775
Medeiros CC, Marini SH, Baptista MT, Guerra G Jr, Maciel-Guerra AT (2000) Turner syndrome and thyroid disease: a transverse study of pediatric patients in Brazil. J Pediatr Endocrinol Metab 13:357–362
Menasha J, Levy B, Hirschhorn K, Kardon NB (2005) Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med 7:251–263
Mortensen KH, Cleemann L, Hjerrild BE, Nexo E, Locht H, Jeppesen EM, Gravholt CH (2009) Increased prevalence of autoimmunity in Turner syndrome – influence of age. Clin Exp Immunol 156:205–210
Persani I, Rossetti R, Cacciatore C, Bonomi M (2009) Primary ovarian insufficiency: X chromosome defects and autoimmunity. J Autoimmun 33:35–41
Radetti G, Mazzanti L, Paganini C, Bernasconi S, Russo G, Rigon F, Cacciari E (1995) Frequency, clinical and laboratory features of thyroiditis in girls with Turner syndrome. The Italian Study Group for Turner’s syndrome. Acta Paediatr 84(8):909–912
Rosina P, Segalla G, Magnanini M, Chieregato C, Barba A (2003) Turner syndrome associated with psoriasis and alopecia areata. J Eur Acad Dermatol Venereol 17:50–52
Scarpa R, Lubrano E, Castiglione F, Morace F, Ames PR, Oriente P (1996) Juvenile rheumatoid arthritis, Crohn’s disease and Turner syndrome: a novel association. Clin Exp Rheumatol 14:449–450
Zenaty D, Laurent M, Carel JC, Leger J (2011) Turner syndrome: what’s new in medical care? Arch Pediatr 18:1338–1342
Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH (1998) Juvenile arthritis in Turner syndrome: a multicentre study. Clin Exp Rheumatol 16:489–494
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Witkowska-Sędek, E. et al. (2017). Thyroid Autoimmunity in Girls with Turner Syndrome. In: Pokorski, M. (eds) Clinical Management of Pulmonary Disorders and Diseases. Advances in Experimental Medicine and Biology(), vol 1022. Springer, Cham. https://doi.org/10.1007/5584_2017_42
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DOI: https://doi.org/10.1007/5584_2017_42
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