An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome.

Jayakrishna Chintanaboina,Thomas R Riley,Pragnesh R Shah

doi:10.1155/2015/186718

Jayakrishna Chintanaboina, Thomas R Riley + Show 1 more

Open Access

https://doi.org/10.1155/2015/186718

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Abstract

Although abnormal liver function tests occur in 50–80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner's syndrome. We report three cases of Turner syndrome associated with hepatic granulomas with a wide range of liver dysfunction. Of the three patients, first patient underwent liver transplantation; second patient remained stable on immunosuppressants; and third patient died from complications of decompensated liver cirrhosis as she declined liver transplantation due to multiple comorbidities. One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. She had remarkably abnormal lipid panel that responded to ezetimibe and by stopping the β-sitosterol supplement.

Highlights

Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome and occurring in about 50 per 100,000 live female births
Turner syndrome is often associated with certain endocrine and metabolic disturbances such as glucose intolerance, diabetes, thyroiditis, hypertension, and elevated liver enzymes
We describe three cases of Turner syndrome associated with hepatic granulomas with one of the patients having Sitosterolemia, a genetic disorder of cholesterol metabolism

Summary

Introduction

Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome and occurring in about 50 per 100,000 live female births. Turner syndrome is often associated with certain endocrine and metabolic disturbances such as glucose intolerance, diabetes, thyroiditis, hypertension, and elevated liver enzymes. Elevated liver enzymes are seen in 50–80% of patients with Turner syndrome; no overt hepatic disease has been identified [1, 2]. Hepatic granulomas are found in a variety of disorders They may be an incidental finding on otherwise normal liver biopsy. There are no previous reports of the association of Turner’s syndrome with hepatic granulomas. We describe three cases of Turner syndrome associated with hepatic granulomas with one of the patients having Sitosterolemia, a genetic disorder of cholesterol metabolism

Case Series

60 Negative

Discussion