Abstract
A 38-year-old man presented with a 6-month history of decreased libido and erectile failure. Clinical examination revealed slate-grey skin pigmentation and facial telangiectasia. Low plasma testosterone and no gonadotropin response to gonadotropin-releasing hormone were indicative of hypogonadotropic hypogonadism. Anterior pituitary and liver function tests were otherwise normal, as was fasting blood glucose. Serum ferritin was raised: 2559 μg/L (normal 25–400 μ g/L). Genotyping confirmed homozygosity for the Cys282Tyr mutation in the HFE gene on chromosome 6, confirming the clinical and biochemical diagnosis of hereditary haemochromatosis.
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