Case report: practical management of hepatopathy in Turner syndrome

Abstract

Turner syndrome (TS) is a genetic disease attributable to the complete or partial absence of one X chromosome in a female individual. Hepatic disturbances are commonly encountered in TS and yet their pathophysiological mechanisms as well as their management are to be ascertained. Herein, we report a case of a 10-year-old patient with TS, who had cytolysis and cholestasis. Etiological assessment was negative. She was treated with hormonal replacement therapy. Despite this, her liver enzymes remained elevated. Ursodesoxycholic acid was thus administered. The evolution was marked by the normalization of her biological tests. This case raises intriguing points of discussion: pathophysiology and management of the hepatic derangements found in TS.