Endocrine Abstracts

A 66-year-old Caucasian male presented with polydipsia, profound weight loss, blood glucose of 29.1 millimoles per litre and mild acidosis. Urinalysis revealed no ketonuria. A mild acidosis was also identified. A bronzed skin appearance was noted which together with deranged liver function raised suspicions of haemochromatosis in conjunction with newly diagnosed diabetes. Initial treatment involved rehydration, intravenous then subcutaneous insulin therapy. Subsequent abdominal computerised tomography revealed early cirrhosis, mild ascites and splenomegaly. Autoimmune and hepatitis screens were negative. Ferritin levels were significantly raised at 5682 micrograms per litre (normal range 30-300) compatible with primary haemochromatosis, confirmed with genetic screening and identification of the C282Y mutation. Following discharge the patient was treated with weekly venesection.

A history of impotence dating back over six years was identified with previous low testosterone levels. However, no investigations into the aetiology had ever been performed. Dynamic pituitary function testing confirmed hypogonadotrophic hypogonadism only. A magnetic resonance scan of the brain revealed deposition of iron in the pituitary gland. In addition, the basal ganglia displayed high signal changes on T1 weighted imaging consistent with manganese deposition, a feature uncommonly seen in liver cirrhosis. Pituitary involvement from haemochromatosis was thus suspected.

Repeat computerised tomography of the abdomen revealed lesions consistent with hepatocellular carcinoma. Treatment involved chemotherapeutic embolisation. Unfortunately, the patient was admitted with decompensated liver disease complicated by oesophageal variceal bleeding. Despite therapeutic measures he died.

Our case demonstrates the endocrine complications of primary haemochromatosis. Development of hypopituitarism often first presents with gonadal axis disturbance. Appropriate investigation of hypogonadism may have led to earlier diagnosis of this multi-system disorder.

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