All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis

Hypopituitarism usually occurs as the result of a pituitary tumour or as a consequence of its treatment. If, however, pituitary imaging is negative then an alternative diagnosis should be sought. Patients are often diagnosed as having idiopathic hypopituitarism when imaging is normal. Our objective is to highlight the importance of screening for hemochromatosis in patients with presumed 'idiopathic' hypopituitarism. Our patients presented initially with biochemical hypopituitarism and, after initial investigation and normal imaging, were labelled as having idiopathic disease. They subsequently developed iron overload in cardiac and hepatic tissue respectively requiring regular venesection to deplete body stores. Genetic analysis revealed homozygosity for the C282Y mutation in our first patient thus explaining his more severe iron overload whereas our second case was a heterozygote for the same mutation, with iron overload confirmed on liver biopsy. We recommend that iron studies are performed in all patients who present with hypopituitarism and normal pituitary imaging. This may lead to reversal of the hypopituitarism and avoid development of any systemic consequences of hemochromatosis.