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eISSN: 2300 - 8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Bieżący numer Archiwum Artykuły zaakceptowane O czasopiśmie Rada naukowa Bazy indeksacyjne Kontakt Zasady publikacji prac Standardy etyczne i procedury
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2/2021
vol. 96
 
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Artykuł oryginalny

The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study

Nanees Abdel-Badie Salem
1
,
Shimaa R. Hendawy
2

1.
Pediatric Endocrinology and Diabetes Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt
2.
Department of Clinical Pathology, Mansoura University, Egypt
Pediatr Pol 2021; 96 (2): 101–108
Data publikacji online: 2021/07/01
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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.