DOI: 10.36347/sjmcr.2020.v08i05.017

Pages: 559-561

Turner's syndrome, the most common chromosome abnormality in females, is the consequence of complete absence or partial deletion of one X chromosome. It is associated with a wide spectrum of clinical features of which short stature and gonadal dysgenesis are almost invariably present. Women with Turner's syndrome are susceptible to a number of disorders including autoimmune diseases. A case of a primary biliary cirrhosis (PBC) in a patient with Turner's syndrome is presented. The individual was admitted for a 3 menth history of intermittent abdominal pain and progressive distension. Laboratory, radiology and endoscopic investigations confirmed the diagnosis of PBC with portal hypertension. The possible association of Turner's syndrome with primary biliary cirrhosis is here discussed with a review of the published literature.