Hepatic disease in Turner syndrome

Abstract

Liver test abnormalities are frequent in adult patients with Turner syndrome, but only few histological studies have been reported in the literature. The hepatic histological changes found in TS patients may be explained by one or more distinct physiopathological mechanisms. Marked architectural changes, including nodular regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis, are observed in some patients and are associated with a risk of severe liver-related complications. These changes are frequently associated with vascular disorders that are probably related to congenitally abnormal vessels. Steatosis, steatofibrosis and steatohepatitis are frequent, caused by metabolic disorders. Finally, bile duct alterations resembling small duct sclerosing cholangitis are observed in several patients. There is no evidence for liver toxicity due to oestrogen replacement therapy.