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

Abstract

Aim of the study: 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.