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Related Experiment Video

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Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis
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Turner syndrome with ulcerative colitis.

Hiromi Hyodo1, Yuichiro Tomita, Kohta Hirai

  • 1Department of Pediatrics, Tokai University School of Medicine, Kanagawa, Japan.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
|August 9, 2013
PubMed
Summary
This summary is machine-generated.

Turner syndrome, a chromosomal condition, is linked to autoimmune disorders. This case highlights ulcerative colitis in a patient with Turner syndrome, suggesting a potential link between X chromosome abnormalities and inflammatory bowel disease.

Keywords:
46,X,i(Xq)Turner syndromeulcerative colitis

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Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Turner syndrome is a chromosomal disorder associated with increased risk of autoimmune diseases.
  • Inflammatory bowel disease (IBD) encompasses chronic inflammatory conditions of the gastrointestinal tract, with multifactorial etiology.
  • Recent reports suggest an association between Turner syndrome and IBD.

Observation:

  • A 13-year-old female with Turner syndrome (karyotype 46,X,i(Xq)) presented with symptoms of abdominal discomfort and bloody diarrhea.
  • Diagnostic imaging and endoscopy revealed characteristic signs of ulcerative colitis, including colonic inflammation, ulcerations, and polyps.
  • Histopathological examination confirmed significant mucosal and submucosal inflammation consistent with ulcerative colitis.

Findings:

  • The patient was diagnosed with ulcerative colitis, a form of inflammatory bowel disease.
  • Treatment initiated included 5-aminosalicylic acid, prednisolone, and dietary modifications.
  • The case suggests a potential influence of X chromosome abnormalities on IBD development.

Implications:

  • This case underscores the importance of considering gastrointestinal disorders, particularly IBD, in patients with Turner syndrome.
  • Routine screening for gastrointestinal diseases in Turner syndrome patients may improve long-term health outcomes.
  • Further research into the genetic and immunological links between Turner syndrome and IBD is warranted.