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Turner syndrome associated with ulcerative colitis.

Junji Takaya1, Masayuki Teraguchi1, Yumiko Ikemoto1

  • 1Department of Pediatrics, Kansai Medical University, Moriguchi, Osaka 570-8506, Japan.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
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This case study highlights a young girl with Turner syndrome who developed ulcerative colitis (UC). Early diagnosis and treatment of UC are crucial, and growth velocity can indicate underlying systemic conditions.

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GH therapyTurner syndromegrowth velocityulcerative colitis

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Area of Science:

  • Pediatric Endocrinology
  • Gastroenterology
  • Genetics

Background:

  • Turner syndrome (45,X) is a genetic condition affecting females.
  • Coarctation of the aorta and gastrointestinal issues can be associated with Turner syndrome.
  • Ulcerative colitis (UC) is a chronic inflammatory bowel disease.

Purpose of the Study:

  • To report a rare case of a pediatric patient with Turner syndrome, coarctation of the aorta, and subsequent diagnosis of ulcerative colitis.
  • To discuss the diagnostic process and management of concurrent conditions in a pediatric patient.

Main Methods:

  • Case report detailing a 7-year-old girl diagnosed with Turner syndrome in infancy.
  • Diagnostic workup included karyotype analysis, barium enema, colonoscopy with biopsies, and assessment of growth velocity.
  • Treatment involved growth hormone (GH) therapy and mesalazine for ulcerative colitis.

Main Results:

  • The patient presented with symptoms consistent with ulcerative colitis (bloody diarrhea, abdominal discomfort) at age 4.
  • Endoscopic and histological findings confirmed ulcerative colitis extending to the splenic flexure.
  • Mesalazine therapy resolved gastrointestinal symptoms; GH therapy showed initial but later diminished growth response.

Conclusions:

  • Patients with Turner syndrome experiencing gastrointestinal symptoms warrant investigation for inflammatory bowel diseases like UC.
  • Monitoring growth velocity is essential for identifying potential inflammatory bowel diseases and other systemic comorbidities in patients with Turner syndrome.