A Rare Association of Turner Syndrome, Celiac Disease, and Ulcerative Colitis in a Pediatric Patient: A Case Report.
6 affiliations
- 1Division of Paediatric Gastroenterology, Hepatology & Nutrition, First Department of Pediatrics, "Agia Sofia" Children's Hospital, Medical School, National & Kapodistrian University of Athens, Thivon & Papadiamantopoulou Street, Goudis, 11527 Athens, Greece.
- 2Department of Gastroenterology, "Agia Sofia" Children's Hospital, 11527 Athens, Greece.
- 3Pathology Department, "Agia Sofia" Children's Hospital, 11527 Athens, Greece.
- 4First Department of Pediatrics, "Agia Sofia" Children's Hospital, 11527 Athens, Greece.
- 5Second Department of Pediatrics, "Agia Sofia" Children's Hospital, 11527 Athens, Greece.
- 6Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, "Agia Sofia" Children's Hospital, Medical School, National & Kapodistrian University of Athens, 11527 Athens, Greece.
Abstract
Background and Clinical Significance: Turner syndrome is associated with an increased prevalence of autoimmune disorders, particularly celiac disease, and is also associated with impaired bone health. The coexistence of Turner syndrome, celiac disease, and ulcerative colitis is rare and represents a challenging clinical scenario requiring multidisciplinary management; Case Presentation: We report the case of a 7-year-old girl referred for short stature who was diagnosed with celiac disease based on positive serology and duodenal histology (Marsh 3a/3c). Cytogenetic analysis revealed 46,X,i(X)(q10) Turner syndrome. Despite strict adherence to a gluten-free diet, persistent growth impairment led to initiation of recombinant human growth hormone therapy. At 14 years of age, she developed bloody diarrhea, weight loss, iron-deficiency anemia, and elevated inflammatory markers. Colonoscopy and histology confirmed extensive ulcerative colitis. During follow-up, dual-energy X-ray absorptiometry demonstrated reduced bone mineral density (lumbar spine Z-score -2.7; whole-body Z-score -2.5). At 16 years of age, treatment with azathioprine and 5-aminosalicylic acid was complicated by pancreatitis, with recurrence of pancreatic enzyme elevation following sequential drug reintroduction, leading to discontinuation of both agents. Infliximab therapy was subsequently initiated, resulting in sustained clinical, endoscopic, and near-complete histological remission. The patient was later transitioned to adult multidisciplinary care; Conclusions: The coexistence of Turner syndrome, celiac disease, ulcerative colitis, and low bone mineral density is an exceptionally rare combination of genetic susceptibility, autoimmunity, and chronic inflammation. This case highlights the importance of lifelong multidisciplinary surveillance in patients with Turner syndrome, including monitoring for additional autoimmune disorders, growth impairment, and skeletal complications.
Related
- Beyond the gut: Non-specific interstitial pneumonia in pediatric ulcerative colitis-A rare extra-intestinal manifestation.
- Prior Ustekinumab Exposure and Ulcerative Colitis Are Associated with Suboptimal Trough Levels in Patients Receiving Advanced-Line Vedolizumab or Ustekinumab for Inflammatory Bowel Disease: A Cross-Sectional Cohort Study
- Outcomes and Reclassification Patterns in Inflammatory Bowel Disease Unclassified: A Multicenter Study Matched With Ulcerative Colitis From Spanish ENEIDA Registry
- Longitudinal timepoint assessment of patient-reported clinical disease activity in ulcerative colitis and Crohn’s disease: suitability of a rapid Patient-Reported Outcome 2 (PRO-2) assessment
- Suspected Seronegative Spondyloarthropathy in a Young Woman With Ulcerative Colitis and Concurrent Bleeding Symptoms
BibTeX
@article{rogalidou2026rare,
title = {{A Rare Association of Turner Syndrome, Celiac Disease, and Ulcerative Colitis in a Pediatric Patient: A Case Report.}},
author = {Maria Rogalidou and Konstantina Dimakou and Kalliopi Stefanaki and Evanthia Botsa and Anna Messaritaki and Christina Kanaka-Gantenbein},
journal = {Reports (MDPI)},
year = {2026},
month = sep,
doi = {10.3390/reports9040322},
url = {https://europepmc.org/article/MED/42924774},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Rare Association of Turner Syndrome, Celiac Disease, and Ulcerative Colitis in a Pediatric Patient: A Case Report.
AU - Maria Rogalidou
AU - Konstantina Dimakou
AU - Kalliopi Stefanaki
AU - Evanthia Botsa
AU - Anna Messaritaki
AU - Christina Kanaka-Gantenbein
PY - 2026
DA - 2026/09/23
JO - Reports (MDPI)
DO - 10.3390/reports9040322
UR - https://europepmc.org/article/MED/42924774
AB - Background and Clinical Significance: Turner syndrome is associated with an increased prevalence of autoimmune disorders, particularly celiac disease, and is also associated with impaired bone health. The coexistence of Turner syndrome, celiac disease, and ulcerative colitis is rare and represents a challenging clinical scenario requiring multidisciplinary management; Case Presentation: We report the case of a 7-year-old girl referred for short stature who was diagnosed with celiac disease based on positive serology and duodenal histology (Marsh 3a/3c). Cytogenetic analysis revealed 46,X,i(X)(q10) Turner syndrome. Despite strict adherence to a gluten-free diet, persistent growth impairment led to initiation of recombinant human growth hormone therapy. At 14 years of age, she developed bloody diarrhea, weight loss, iron-deficiency anemia, and elevated inflammatory markers. Colonoscopy and histology confirmed extensive ulcerative colitis. During follow-up, dual-energy X-ray absorptiometry demonstrated reduced bone mineral density (lumbar spine Z-score -2.7; whole-body Z-score -2.5). At 16 years of age, treatment with azathioprine and 5-aminosalicylic acid was complicated by pancreatitis, with recurrence of pancreatic enzyme elevation following sequential drug reintroduction, leading to discontinuation of both agents. Infliximab therapy was subsequently initiated, resulting in sustained clinical, endoscopic, and near-complete histological remission. The patient was later transitioned to adult multidisciplinary care; Conclusions: The coexistence of Turner syndrome, celiac disease, ulcerative colitis, and low bone mineral density is an exceptionally rare combination of genetic susceptibility, autoimmunity, and chronic inflammation. This case highlights the importance of lifelong multidisciplinary surveillance in patients with Turner syndrome, including monitoring for additional autoimmune disorders, growth impairment, and skeletal complications.
SN - 2571-841X
ER -