INCREASED PREVALENCE OF CELIAC DISEASE IN GIRLS WITH TURNER SYNDROME

Abstract

31 Background and Aim Turner syndrome (TS) involves abnormalities of the X chromosome. Short stature and gonadal dysgenesis are major manifestations. Autoimmune conditions such as thyroid disease, type 1 diabetes mellitus, juvenile rheumatoid arthritis and autoimmune hepatitis are more commonly seen in TS. Crohn's disease has also been reported. Celiac disease (CD) is described in a small number of case reports and one larger Italian screening study. We aimed to find the prevalence of CD in the 40 girls with TS followed at our center. Methods So far serum from 18 girls, median age 12.4 years (range 5.3-17.6 years) has been prospectively screened for CD in a blinded fashion using IgA endomysium (EmA) and tissue transglutaminase (tTG) antibodies. EmA was tested using immunofluorescence against human umbilical cord and tTG tested using ELISA with guinea-pig tTG as the substrate. Patients positive for one or both antibodies were offered endoscopic small bowel biopsy to confirm the diagnosis. Results One 8-year-old girl was positive for EmA (up to a dilution of 1:100) and had an elevated tTG of 560 AU/ml (normal range <140 AU/ml). She had biopsy performed. Histology demonstrated partial villous atrophy consistent with celiac disease. Prior to treatment her height was 115.3 cm (50-75th centile on a Turner chart) and weight 20.3 kg. She was commenced on a gluten-free diet and its impact on growth is being monitored. Two further girls (aged 6 and 12 years) had negative EmA and elevated tTG with levels of 175 and 220 respectively. Biopsy was declined in both. Conclusion Our study demonstrates a biopsy-proven prevalence of 5.6% and confirms previous reports of an increased prevalence of CD in TS. The significance of elevated tTG in isolation is uncertain but serology will be repeated in 6 months to monitor the trend in both antibodies. Further larger studies are warranted to firmly establish this association and to monitor the benefit of gluten-free diet on growth in TS patients.