ORIGINAL PAPER
The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study
1
Pediatric Endocrinology and Diabetes Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt
2
Department of Clinical Pathology, Mansoura University, Egypt
Submission date: 2021-02-10
Final revision date: 2021-03-29
Acceptance date: 2021-04-10
Publication date: 2021-07-01
Pediatr Pol 2021;96(2):101-108
KEYWORDS
TOPICS
ABSTRACT
Introduction:
An association between celiac disease (CD) and Turner syndrome (TS) has gained widespread recognition with wide-ranging prevalence rates. Insufficient data are available concerning this association among Egyptian TS girls. Therefore, we aimed to examine the prevalence of CD; to define the predisposing HLA-genotypes, clinical characteristics and associated comorbidities in a cohort of Egyptian TS girls; and to assess the impact of karyotypes and oestrogen exposure on the overall prevalence of autoimmunity.
Material and methods:
Fifty-five TS girls were initially screened by total IgA and anti-tissue transglutaminase (anti-tTG) IgA. Anti-tTG-IgG assay is a second step in IgA-deficient girls. CD-seropositive TS girls were subjected to HLA-typing and endoscopic duodenal biopsies, and were evaluated for associated comorbidities.
Results:
Seroprevalence (anti-tTG-IgA > 10 U/ml) and biopsy-confirmed prevalence of CD were 5.5% (3/55) and 3.6% (2 girls only underwent endoscopic biopsies and displayed Marsh-IIIb), respectively. Absolute and partial IgA-deficiency were observed in 1 and 5 girls, respectively; they were all negative for anti-tTG-IgG. HLA-typing of CD-seropositive girls showed that case 1: DQA1+/DRB1–; case 2: DQA1+/DRB1+; and case 3: DQB1+/DRB1–. Iron-deficiency anaemia, vitamin-D deficiency, and low bone mineral density were detected among celiac girls. No significant associations were observed between different karyotypes or oestrogen exposure and autoimmunity prevalence.
Conclusions:
Seroprevalence and biopsy-confirmed prevalence of CD in Egyptian TS girls were 5.5% and 3.6%, respectively, which supports the association between these disorders and reinforces the importance of screening for CD in TS patients as a high-risk population. All CD-seropositive girls displayed the predisposing CD HLA-DQ2 and/or DR4 alleles. Careful surveillance for comorbidities is essential to improve overall health outcomes.
An association between celiac disease (CD) and Turner syndrome (TS) has gained widespread recognition with wide-ranging prevalence rates. Insufficient data are available concerning this association among Egyptian TS girls. Therefore, we aimed to examine the prevalence of CD; to define the predisposing HLA-genotypes, clinical characteristics and associated comorbidities in a cohort of Egyptian TS girls; and to assess the impact of karyotypes and oestrogen exposure on the overall prevalence of autoimmunity.
Material and methods:
Fifty-five TS girls were initially screened by total IgA and anti-tissue transglutaminase (anti-tTG) IgA. Anti-tTG-IgG assay is a second step in IgA-deficient girls. CD-seropositive TS girls were subjected to HLA-typing and endoscopic duodenal biopsies, and were evaluated for associated comorbidities.
Results:
Seroprevalence (anti-tTG-IgA > 10 U/ml) and biopsy-confirmed prevalence of CD were 5.5% (3/55) and 3.6% (2 girls only underwent endoscopic biopsies and displayed Marsh-IIIb), respectively. Absolute and partial IgA-deficiency were observed in 1 and 5 girls, respectively; they were all negative for anti-tTG-IgG. HLA-typing of CD-seropositive girls showed that case 1: DQA1+/DRB1–; case 2: DQA1+/DRB1+; and case 3: DQB1+/DRB1–. Iron-deficiency anaemia, vitamin-D deficiency, and low bone mineral density were detected among celiac girls. No significant associations were observed between different karyotypes or oestrogen exposure and autoimmunity prevalence.
Conclusions:
Seroprevalence and biopsy-confirmed prevalence of CD in Egyptian TS girls were 5.5% and 3.6%, respectively, which supports the association between these disorders and reinforces the importance of screening for CD in TS patients as a high-risk population. All CD-seropositive girls displayed the predisposing CD HLA-DQ2 and/or DR4 alleles. Careful surveillance for comorbidities is essential to improve overall health outcomes.
REFERENCES (32)
1.
Gravholt CH, Andersen NH, Conway GS, et al.; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1-G70.
2.
Bakalov VK, Gutin L, Cheng CM, et al. Autoimmune disorders in women with Turner syndrome and women with karyotypically normal primary ovarian insufficiency. J Autoimmun 2012; 38: 315-321.
3.
Jorgensen KT, Rostgaard K, Bache I, et al. Autoimmune diseases in women with Turner’s syndrome. Arthritis Rheum 2010; 62: 658-666.
4.
Mortensen KH, Cleemann L, Hjerrild BE, et al. Increased prevalence of autoimmunity in Turner syndrome – influence of age. Clin Exp Immunol 2009; 156: 205-210.
5.
El-Mansoury M, Bryman I, Berntorp K, et al. Hypothyroidism is common in Turner syndrome: results of a five-year follow-up. J Clin Endocrinol Metab 2005; 90: 2131-2135.
6.
Elsheikh M, Wass JA, Conway GS. Autoimmune thyroid syndrome in women with Turner’s syndrome- the association with karyotype. Clin Endocrinol (Oxf) 2001; 55: 223-226.
7.
Hill ID, Dirks MH, Liptak GS, et al; North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2005; 40: 1-192.
8.
Husby S, Koletzko S, Korponay-SzabÒ IR, et al.; ESPGHAN Working Group on Coeliac Disease Diagnosis; ESPGHAN Gastroenterology Committee; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012; 54: 136-160.
9.
Thatcher N, Besser GM, Stephens AD. Turner’s syndrome with coeliac disease, thin bones and abnormal liver function tests. Postgrad Med J 1973; 49: 738-740.
10.
Bonamico M, Bottaro G, Pasquino AM, et al. Celiac disease and Turner syndrome. J Pediatr Gastroenterol Nutr 1998; 26: 496-499.
11.
Moayeri H, Bahremand SH. Prevalence of celiac disease in patients with Turner’s syndrome. Acta Med Iran 2005; 43: 287-290.
12.
Dias Mdo C, Castro LC, Gandolfi L, et al. Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil. Arq Gastroenterol 2010; 47: 246-249.
13.
Wegiel M, Antosz A, Gieburowska J, et al. Autoimmunity Predisposition in Girls with Turner Syndrome. Front Endocrinol (Lausanne) 2019; 30: 511.
14.
Nadeem M, Roche EF. Coeliac disease in Turner syndrome. Arch Dis Child 2013; 98: 649-650.
15.
Rutigliano I, Sacco M, Pastore M, et al. Celiac disease and autoimmunity in Turner Syndrome. Digest Liver Dis 2015; 47: e268.
16.
Su MA, Stenerson M, Liu W, et al. The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients. Clin Immunol 2009; 131: 139-144.
17.
Gawlik A, Berdej-Szczot E, Blat D, et al. Immunological profile and predisposition to autoimmunity in girls with Turner syndrome. Front Endocrinol 2018; 9: 307.
18.
Saurer L, Mueller C. T cell mediated immunoregulation in the gastrointestinal tract. Allergy 2009; 64: 505-519.
19.
El-Bassyouni HT, Afifi HH, Aglan MS, et al. Growth Curves of Egyptian Patients with Turner Syndrome. Am J Med Genet Part A.
21.
Aghamohammadi A, Cheraghi T, Gharagozlou M, et al. IgA deficiency: correlation between clinical and immunological phenotypes. J Clin Immunol 2009; 29: 130-136.
22.
Kleigman RM, Behrman RE, Jenson HB, et al. Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier, Philadelphia 2007.
23.
Oberhuber G, Granditsch G, Vogelsang H. The histopathology of coeliac disease: time for a standardised report scheme for pathologist. Eur J Gastroenterol Hepatol 1999; 11: 1185-1194.
24.
Sacchetti L, Sarrantonio C, Pastore L, et al. Rapid identification of HLA DQA1*0501, DQB1*0201 and DRB1*04 alleles in celiac disease by a PCR-based methodology. Clin Chem 1997; 43: 2204-2227.
25.
Bianchi ML, Baim S, Bishop NJ, et al. Official positions of the International Society for Clinical Densitometry (ISCD) on DXA evaluation in children and adolescents. Pediatr Nephrol 2010; 25: 37-47.
26.
Abu-Zekry M, Kryszak D, Diab M, et al. Prevalence of celiac disease in Egyptian children disputes the east-west agriculture dependent spread of the disease. J Pediatr Gastroenterol Nutr 2008; 47: 136-140.
27.
Hamza RT, Raof NA, Abdallah KO. Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype. J Pediatr Endocrinol Metab 2013; 26: 545-550.
28.
Mazzanti L, Naeraa RW. Autoimmune diseases in Turner syndrome. Int Congr 2006; 1298: 42-48.
29.
Mårild K, Størdal K, Hagman A, et al. Turner Syndrome and Celiac Disease: A Case Control Study. Pediatrics 2016; 137: e20152232.
30.
Cataldo E, Marino V, Bottaro G, et al. Celiac disease and selective immunoglobulin A deficiency. J Pediatr 1997; 131: 306-308.
31.
Berglund A, Cleemann L, Oftedal BE, et al. 21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I. Clin Exp Immunol 2019; 195: 364-368.
32.
Husby S, Koletzko S, Korponay-Szabó I, et al; European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr 2020; 70: 141-156.
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