[Chronic asymptomatic intrahepatic cholestasis associated with Turner's syndrome]

Turner syndrome or the gonadal dysgenesis syndrome which is monosomic because of the lack of an X chromosome (45 X) is associated to a greater incidence of autoimmune, particularly thyroidal, disorders and inflammatory intestinal disease, but is rarely associated to hepatic disorders. A female patient with chronic asymptomatic intrahepatic cholestasis which, to our knowledge, is the first reported in Spain, is herein presented. The 40-year old patient with a 45 X karyotype, feminine phenotype was accidently found to have a chronic alteration in the hepatic profile. Hepatic biochemical tests revealed AST 59 U/L, ALT 90 U/L, GGT 201 U/L and alkaline phosphatase 320 U/L. Hepatic echography was normal. Percutaneous liver biopsy was performed demonstrating minimum changes consisting of sinusoidal dilatation and pigment accumulation in the hepatocyte biliary pole. Treatment with ursodeoxycholic acid 15 mg/kg/day was administered showing a marked decrease in the laboratory parameters during follow up. Different hypothesis which may explain the association between chronic asymptomatic intrahepatic cholestasis and Turner syndrome are discussed.