Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report

Abstract

Introduction: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in Turner syndrome. Granulomas are relatively common in liver samples but are very rarely reported in Turner syndrome. Case Presentation: a 15-year-old female with Turner syndrome attended a consultation for evaluation of elevated liver enzymes. Her chromosomal analysis showed mosaicism 46, X (iso xq)100%. There were no stigmata of chronic liver disease. A liver biopsy showed granulomatous hepatitis. Other causes of hepatic granulomas have been excluded. Ursodeoxycholic Acid (UDCA) therapy leads to the normalization of transaminases. Clinical Discussion: Although Hepatic involvement is common and mostly asymptomatic in Turner syndrome, the mechanism of liver injury is not well understood. The hepatic histological changes in these cases are variable and range from minimal abnormalities to nonalcoholic steatohepatitis (NASH), liver architectural changes, and biliary lesions. Hepatic granulomas are associated with a wide range of systemic disorders but are very rarely reported in tuner syndrome. Normalization of liver enzymes after treatment with Ursodeoxycholic Acid (UDCA) was previously reported, but the importance of this approach is to be determined. Conclusion: Granulomatous hepatitis may be associated with Turner syndrome and may be added to the histological patterns encountered in this disorder.