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Gastrointestinal and Hepatic Issues in Women with Turner Syndrome

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Turner Syndrome

Abstract

Patients with Turner syndrome are more prone than the general population to develop gastrointestinal inflammatory and noninflammatory conditions. Among the inflammatory condition with significant impact on growth, development, and quality of life are celiac disease and Crohn’s disease. Additionally both conditions may impact the response to hormonal therapy in TS if untreated. It is imperative to recognize the presence of celiac disease and Crohn’s disease early, despite the diagnostic challenge since the presenting signs and symptoms often overlap with TS manifestation including growth delay and amenorrhea. Among the noninflammatory manifestations are gastrointestinal bleeding and hepatic manifestations. Bleeding can be life-threatening and warrants emergent care. A multidisciplinary team approach is often needed to address such gastrointestinal manifestations to optimize patient outcomes. This chapter provides a review of the relevant gastrointestinal manifestations in individuals with TS.

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References

  1. Benchimol EI, Fortinsky KJ, Gozdyra P, Van den Heuvel M, Van Limbergen J, Griffiths AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis. 2011;17:423–39.

    Article  PubMed  Google Scholar 

  2. Loddo I, Romano C. Inflammatory bowel disease: genetics, epigenetics, and pathogenesis. Front Immunol. 2015;6:551.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child. 2014;99:71–3.

    Article  PubMed  Google Scholar 

  4. Bakalov VK, Gutin L, Cheng CM, Zhou J, Sheth P, Shah K, Arepalli S, Vanderhoof V, Nelson LM, Bondy CA. Autoimmune disorders in women with Turner syndrome and women with karyotypically normal primary ovarian insufficiency. J Autoimmun. 2012;38:315–21.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Pessach IM, Notarangelo LD. X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J Autoimmun. 2009;33:17–24.

    Article  CAS  PubMed  Google Scholar 

  6. Holtman GA, Lisman-van Leeuwen Y, Reitsma JB, Berger MY. Noninvasive tests for inflammatory bowel disease: a meta-analysis. Pediatrics. 2016;137:e20152126.

    Article  Google Scholar 

  7. Bousvaros A, Antonioli DA, Colletti RB, Dubinsky MC, Glickman JN, Gold BD, Griffiths AM, Jevon GP, Higuchi LM, Hyams JS, Kirschner BS, Kugathasan S, Baldassano RN, Russo PA. Differentiating ulcerative colitis from Crohn disease in children and young adults: report of a working group of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the Crohn’s and Colitis Foundation of America. J Pediatr Gastroenterol Nutr. 2007;44:653–74.

    Article  PubMed  Google Scholar 

  8. Rufo PA, Denson LA, Sylvester FA, Szigethy E, Sathya P, Lu Y, Wahbeh GT, Sena LM, Faubion WA. Health supervision in the management of children and adolescents with IBD: NASPGHAN recommendations. J Pediatr Gastroenterol Nutr. 2012;55:93–108.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Long MD, Kappelman MD, Martin CF, Chen W, Anton K, Sandler RS. Role of nonsteroidal anti-inflammatory drugs in exacerbations of inflammatory bowel disease. J Clin Gastroenterol. 2016;50:152–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Crone J, Rami B, Huber WD, Granditsch G, Schober E. RBHWDGGSE: prevalence of celiac disease and follow-up of EMA in childrend and adolescents with type 1 diabetes mellitus. J Pediatr Gastroenterol Nutr. 2003;37:67.

    Article  CAS  PubMed  Google Scholar 

  11. Giannotti A, Tiberio G, Castro M, Virgilii F, Colistro F, Ferretti F, Digilio MC, Gambarara M, Dallapiccola B. Coeliac disease in Williams syndrome. J Med Genet. 2001;38:767.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Internal Med. 2003;163:286.

    Article  Google Scholar 

  13. Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, Guandalini S, Hoffenberg EJ, Horvath K, Murray JA, Pivor M, Seidman EG. Guidelines for diagnosis and treatment of celiac disease in children: recommendations of the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40:1–19.

    Article  PubMed  Google Scholar 

  14. Moayeri HB. Prevalence of celiac disease in patients with Turner’s syndrome. Acta Med Iran. 2005;43:287–90.

    Google Scholar 

  15. Mårild K, Størdal K, Hagman A, Ludvigsson JF. Turner syndrome and celiac disease: a case-control study. Pediatrics. 2016;137:e20152232.

    Article  PubMed  Google Scholar 

  16. Frost AR, Band MM, Conway GS. Serologically screening for coeliac disease in adults with Turner’s syndrome: prevalence andc linical significance of endomysium antibody positivity. Eur J Endocrinol. 2009;160:877–81.

    Article  CAS  Google Scholar 

  17. Bonamico M, Pasquino AM, Mariani P, Danesi HM, Culasso F, Mazzanti L, et al. Prevalence and clinical picture of celiac disease in Turner syndrome. J Clin Endocrinol Metab. 2002;87:5495–8.

    Article  CAS  PubMed  Google Scholar 

  18. Gillett PM, Gillett HR, Israel DM, Metzger DL, Stewart L, Chanoine JP, et al. Increased prevalence of celiac disease in girls with Turner syndrome detected using antibodies to endomysium and tissue transglutaminase. Can J Gastroenterol. 2000;14:915.

    Article  CAS  PubMed  Google Scholar 

  19. Dias M, Castro L, Gandolfi L, Almeida R, Corboda M, Pratesi R. Screening for celiac disease among patients with Turner syndrome in Brasilia, DF, Midwest region of Brazil. Arg Gastroenterol. 2010;47:246–9.

    Article  Google Scholar 

  20. Bettendorf M, Doerr HG, Hauffa BP, Lindberg A, Mehls O, Partsch CJ, et al. Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. J Pediatric Endocrinol. 2006;19:149–54.

    Article  CAS  Google Scholar 

  21. Mortensen KH, Cleemann L, Hjerrild BE, Nexo E, Locht H, Jeppesen EM, Gravholt CH. Increased prevalence of autoimmunity in Turner syndrome-influence of age. Clin Exp Immunol. 2009;156:205–10.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Arslan D, Kuyucu T, Kendirci M, Kurtoglu S. Celiac disease and Turner’s syndrome: patient report. J Pediatr Endocrinol. 2000;13:1629–31.

    CAS  Google Scholar 

  23. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1–G70.

    Google Scholar 

  24. Sollid LM, Lie BA. Celiac disease genetics: current concepts and practical applications. Clin Gastroenterol Hepatol. 2005;3:843–51.

    Article  CAS  PubMed  Google Scholar 

  25. Mills JR, Murray JA. Contemporary celiac disease diagnosis: is a biopsy avoidable? Curr Opin Gastroenterol. 2016;32:80–5.

    Article  CAS  PubMed  Google Scholar 

  26. Lisser H, Curtis LE, et al. The syndrome of congenitally aplastic ovaries with sexual infantilism, high urinary gonadotropins, short stature and other congenital abnormalities; tabular presentation of 25 previously unpublished cases. J Clin Endocrinol Metab. 1947;7:665–87.

    Article  CAS  PubMed  Google Scholar 

  27. Haddad HM, Wilkins L. Congenital anomalies associated with gonadal aplasia; review of 55 cases. Pediatrics. 1959;23:885–902.

    CAS  PubMed  Google Scholar 

  28. Eroglu Y, Emerick KM, Chou PM, Reynolds M. Gastrointestinal bleeding in Turner’s syndrome: a case report and literature review. J Pediatr Gastroenterol Nutr. 2002;35:84–7.

    Article  PubMed  Google Scholar 

  29. Boyle JT. Gastrointestinal bleeding in infants and children. Pediatr Rev. 2008;29:39–52.

    Article  PubMed  Google Scholar 

  30. Schultz LS, Assimacopoulos CA, Lillehei RC. Turner’s syndrome with associated gastrointestinal hemorrhage: a case report. Surgery. 1970;68:485–8.

    CAS  PubMed  Google Scholar 

  31. Scott T. Turner’s syndrome and vermiform phlebectasia of the bowel. Trans Am Clin Climatol Assoc. 1968;79:45–50.

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Frame B, Rao DS, Ohorodnik JM, Kwa DM. Gastrointestinal hemorrhage in Turner syndrome. Long-term follow-up with postmortem examination. Arch Intern Med. 1977;137:691–2.

    Article  CAS  PubMed  Google Scholar 

  33. Qureshi MA, Mouzaki M, Le T. Diagnosis of small bowel telangiectasia in Turner’s syndrome using capsule endoscopy. J Pediatr Endocrinol Metab. 2009;22:759–62.

    Article  PubMed  Google Scholar 

  34. Nudell J, Brady P. A case of GI hemorrhage in a patient with Turner’s syndrome: diagnosis by capsule endoscopy. Gastrointest Endosc. 2006;63:514–6.

    Article  PubMed  Google Scholar 

  35. Jolley C, Langham MR Jr, Dillard R, Novak D. Intraoperative endoscopy in a child with Turner’s syndrome and gastrointestinal hemorrhage: a case report. J Pediatr Surg. 2001;36:951–2.

    Article  CAS  PubMed  Google Scholar 

  36. O’Hare JP, Hamilton M, Davies JD, Corrall RJ, Mountford R. Oestrogen deficiency and bleeding from large bowel telangiectasia in Turner’s syndrome. J R Soc Med. 1986;79:746–7.

    PubMed  PubMed Central  Google Scholar 

  37. Van Cutsem E. Georges Brohee Prize. Oestrogen-progesterone, a new therapy of bleeding gastrointestinal vascular malformations. Acta Gastroenterol Belg. 1993;56:2–10.

    PubMed  Google Scholar 

  38. Vase P. Estrogen treatment of hereditary hemorrhagic telangiectasia. A double-blind controlled clinical trial. Acta Med Scand. 1981;209:393–6.

    Article  CAS  PubMed  Google Scholar 

  39. Holleran G, Hall B, Breslin N, McNamara D. Long-acting somatostatin analogues provide significant beneficial effect in patients with refractory small bowel angiodysplasia: results from a proof of concept open label mono-centre trial. United European Gastroenterol J. 2016;4:70–6.

    Article  CAS  PubMed  Google Scholar 

  40. Bridwell T. Gonadal dysgenesis (Turner’s syndrome) with associated liver disease and bleeding esophageal varices. Henry Ford Hosp Med Bull. 1959;7:156–60.

    CAS  PubMed  Google Scholar 

  41. Roulot D. Liver involvement in Turner syndrome. Liver Int. 2013;33:24–30.

    Article  CAS  PubMed  Google Scholar 

  42. Lee MC, Conway GS. Liver dysfunction in Turner syndrome and its relationship to = exogenous oestrogen. Eur J Gastroenterol Hepatol. 2013;25:1141–5.

    CAS  PubMed  Google Scholar 

  43. Larizza D, Locatelli M, Vitali L, Vigano C, Calcaterra V, Tinelli C, Sommaruga MG, Bozzini A, Campani R, Severi F. Serum liver enzymes in Turner syndrome. Eur J Pediatr. 2000;159:143–8.

    Article  CAS  PubMed  Google Scholar 

  44. Koulouri O, Ostberg J, Conway GS. Liver dysfunction in Turner’s syndrome: prevalence, natural history = and effect of exogenous oestrogen. Clin Endocrinol. 2008;69:306–10.

    Article  CAS  Google Scholar 

  45. Calcaterra V, Brambilla P, Maffe GC, Klersy C, Albertini R, Introzzi F, Bozzola E, Bozzola M, Larizza D. Metabolic syndrome in Turner syndrome and relation between body = composition and clinical, genetic, and ultrasonographic characteristics. Metab Syndr Relat Disord. 2014;12:159–64.

    Article  CAS  PubMed  Google Scholar 

  46. Chiche L, Adam JP. Diagnosis and management of benign liver tumors. Semin Liver Dis. 2013;33:236–47.

    Article  PubMed  Google Scholar 

  47. Roulot D, Degott C, Chazouilleres O, Oberti F, Cales P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D. Vascular involvement of the liver in Turner’s syndrome. Hepatology. 2004;39:239–47.

    Article  PubMed  Google Scholar 

  48. Gravholt CH, Naeraa RW, Nyholm B, Gerdes LU, Christiansen E, Schmitz O, Christiansen JS. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner’s syndrome. The impact of sex hormone replacement. Diabetes Care. 1998;21:1062–70.

    Article  CAS  PubMed  Google Scholar 

  49. Cheah E, La Hei E, O’Loughlin E. Melena and hyperammonemic seizures in a Turner syndrome patient. Gastroenterology. 2015;148:302–3.

    Article  PubMed  Google Scholar 

  50. Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner’s syndrome. Clin Endocrinol. 2001;55:227–31.

    Article  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Pediatrics-Gastroenterology, Inflammatory Bowel Disease Center, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA

    Ghassan T. Wahbeh

  2. Gastroenterology, Seattle Children’s Hospital, Seattle, WA, USA

    Amanda Bradshaw & Lauren White

  3. Pediatrics-Gastroenterology, Clinical Nutrition & Celiac Program, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA

    Dale Lee

Authors
  1. Ghassan T. Wahbeh
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  2. Amanda Bradshaw
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  3. Lauren White
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  4. Dale Lee
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Corresponding author

Correspondence to Ghassan T. Wahbeh .

Editor information

Editors and Affiliations

  1. Division of Endocrinology, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA

    Patricia Y. Fechner

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Wahbeh, G.T., Bradshaw, A., White, L., Lee, D. (2020). Gastrointestinal and Hepatic Issues in Women with Turner Syndrome. In: Fechner, P. (eds) Turner Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-34150-3_12

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  • DOI: https://doi.org/10.1007/978-3-030-34150-3_12

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-34148-0

  • Online ISBN: 978-3-030-34150-3

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