Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 GP65 | DOI: 10.1530/endoabs.41.GP65

ECE2016 Guided Posters Clinical Case Reports (10 abstracts)

Turner syndrome and liver involvement: is there a place for treatment with ursodeoxycholic acid?

Matilde Calanchini 1, , Ahmad Moolla 1 , Jeremy Cobbold 2 , Jeremy W Tomlinson 1 , Andrea Fabbri 3 , Ashley Grossman 1 & Helen Turner 1,

1Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK; 2Translational Gastroenterology Unit, Department of Gastroenterology and Hepatology, John Radcliffe Hospital, University of Oxford, Oxford, UK; 3Endocrinology Unit, Department of Systems Medicine, S. Eugenio and CTO A. Alesini Hospitals, University of Tor Vergata, Rome, Italy.

Introduction: Abnormalities in liver biochemistry are frequent in Turner’s syndrome (TS) with a reported prevalence between 20 and 80%. While their aetiology remains unclear, metabolic factors and intrahepatic biliary disease have been postulated. Moreover, some TS patients have a predominantly cholestatic biochemical abnormality and others a hepatitic picture. Ursodeoxycholic acid (UDCA) has been shown to be a useful treatment of cholestatic disease.

Case report: A 28-year-old patient with TS (45X/46XrX) was noted to have abnormal liver function tests (LFTs) in 2006 (ALT 171 IU/l (10–45), ALP 693 IU/l (75–250), GGT 232 IU/l (15–40)). At yearly follow-up, for the last 10 years persistently elevated LFTs were found, mostly 2–3 times the upper limit of normal. The bilirubin was normal and hepatic autoimmunity and serology screening were negative. BMI has been stable (25 kg/m2). There was no history of diabetes, hypertension, dyslipidaemia, cardiac, renal or autoimmune disease, excess alcohol intake or family history of liver disease. Treatment with HRT (started age 13 years) was reduced, stopped and changed without any improvement in her LFTs.

Persistence of abnormal LFTs led to liver ultrasound and liver biopsy in 2008, both of which were normal. In 2009 she underwent cholecystectomy due to biliary colic. MRCP in 2014 revealed normal intra and extra-hepatic bile ducts. She was started on UDCA (13 mg/kg per day) from 2014 and after 12 months her LFTs had improved considerably to near normal ranges (ALT 46 UI/l, ALP 144 IU/l (30–130), GGT 89 UI/l).

Conclusions: This case illustrates that oestrogen therapy does not lead to deterioration in LFTs in TS patients, and importantly shows for the first time that UDCA treatment may be of benefit to TS patients with abnormal LFTs. Due to the high prevalence of LFT abnormalities in this population, the use of UDCA warrants further study.

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