Endocrine Abstracts

Background: Hypogonadism and erectile dysfunction have diverse causes. Hypogonadotrophic hypogonadism results from pituitary dysfunction, often caused by pituitary adenoma, pituitary surgery, radiotherapy, or use of prescription/non-prescription drugs. Rarer causes should be considered during initial investigation of patients with erectile dysfunction. We present a case of secondary hypogonadism and how further investigations eventually led to the underlying diagnosis.

Case: A 53-year-old Caucasian presented with reduced libido and gradually worsening tiredness. He was on insulin for type 2 diabetes mellitus and levothyroxine for hypothyroidism. Pituitary profile was consistent with hypogonadotrophic hypogonadism and he was started on testosterone replacement. During a subsequent visit, magnetic resonance imaging (MRI) of the pituitary was requested as routine. Two years after initial presentation, at a routine clinic review, he complained of arthralgia and feeling increasingly tired. His skin appeared deeply tanned, which he attributed to recent European travel. MRI scan report was reviewed and showed a hypoplastic pituitary gland with haemosiderin deposition. In view of skin tanning and the MRI findings, serum ferritin was requested to rule out haemochromatosis. The ferritin levels were significantly elevated at 18 186 ng/ml. Subsequent iron studies confirmed iron overload and genetic studies showed homozygous HFE gene mutation C282Y. Fibroscan showed cirrhosis of liver. He is currently managed with regular venesection.

Discussion: Hereditary hemochromatosis is an autosomal recessive iron storage disorder. Unrestricted absorption of iron from upper small intestine leads to widespread iron accumulation and tissue damage. A high index of suspicion is essential to diagnose hemochromatosis early. Early diagnosis and venesection can avoid the long-term complications from prolonged iron deposition. This case had characteristic features of slate-grey skin pigmentation, diabetes, cirrhosis, arthralgia, hypothyroidism, and hypogonadotrophic hypogonadism. It is therefore important to consider the possibility of a unifying underlying diagnosis when seemingly disparate constellation of findings is encountered in clinical practice.