Biochemical liver abnormalities in Turner's syndrome

M. Mercè Albareda, Adolfo Gallego, Jaime Enríquez, José Luis Rodríguez, Susan M. Webb

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Background. Turner's syndrome is a chromosomal abnormality (45X0) which may be associated with various autoimmune disorders and disease conditions; however, association with liver pathology has rarely been reported. Objectives. The aim of this work was to assess liver function abnormalities in a group of adult patients with Turner's syndrome. Design and methods. Liver function tests were performed in 16 women with Turner's syndrome all of whom had been previously treated with oestrogens. Patients with liver abnormalities were further studied with hepatic ultrasonography, serological markers of viral hepatitis and autoantibody determinations. Results. Seven women (43.7%) presented with asymptomatic liver cholestasis; these patients were older than those with normal biochemical values (33.4 ± 5.2 vs 24.7 ± 5.7 years, P < 0.05). Liver function abnormalities appeared 7.8 ± 4.9 years after starting oestrogen therapy; however, no improvement of liver function was observed 20 ± 17.7 months after stopping treatment. All of these women were anti-HCV and HBsAg negative, and autoimmune hepatitis was ruled out in all cases. Liver ultrasound only disclosed homogeneous liver enlargement in one case and cholelithiasis without bile duct abnormalities in another. Four patients underwent a percutaneous liver biopsy of which two were normal and two showed minimal non-specific changes. Conclusions. The incidence of biochemical liver cholestasis in this group of patients with Turner's syndrome is high. Oestrogen therapy and autoimmune disorders do not seem to be the responsible causes. It appears that this is a benign condition which does not seem to reflect any substantial liver dysfunction. The aetiology remains uncertain.
Original languageEnglish
Pages (from-to)1037-1039
JournalEuropean Journal of Gastroenterology and Hepatology
Issue number9
Publication statusPublished - 18 Nov 1999


  • Autoimmune hepatitis
  • Liver cholestasis
  • Oestrogen therapy
  • Turner's syndrome


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