Hypogonadism and Hepatic Steatosis in Heterozygous Hemochromatosis

brief Abstract A 52-year-old gentleman with a compound heterozygote genotype (C282Y/H63D) of hereditary hemochromatosis (HH) complicated by hypogonadism and hepatic steatosis underwent successful resolution of these clinical problems with phlebotomy and hormone replacement therapy. The patient had no features of metabolic syndrome nor did he consume significant amounts of alcohol. Investigations revealed normal HbA1c, lipid panel, and liver biochemistry. Comprehensive review of current literature indicates that the clinical significance of compound heterozygosity for HH is controversial and that other aetiologies for hepatic steatosis and hypogonadism must be ruled out initially. Low testosterone levels have been associated with hepatic steatosis in non-alcoholic fatty liver disease (NAFLD) attributed to low circulating sex hormone binding globulin. There is also an association between HH compound heterozygosity and the development of NAFLD and hepatocellular carcinoma (HCC) with or without cirrhosis. Depletion of iron stores by phlebotomy and complete abstinence from alcohol likely contributed to resolution this patient’s severe hepatic steatosis.