Loss of libido and erectile dysfunction as initial symptoms of haemochromatosis in a 24-year-old man

History and clinical findings: A 24 year old yugoslavian father of two chil dren, complained of decreased libido and impotence since seven months. He a lso described recurrent joint pains in the knees and wrist joints. The urol ogical and internal examination was unremarkable. Investigations: Except for slightly elevated liver enzymes and a mild throm bocytopenia the laboratory tests were normal. Testosteron, follicle stimula ting hormone and luteinizing hormone concentrations were markedly decreased . Hepatosplenomegaly was demonstrated by ultrasound. Treatment and course: During testosteron administration for hypogonadotroph ic hypogonadism erectile dysfunction improved. 9 months later the patient b ecame diabetic and was referred to our department. Hemochromatosis was conf irmed by serum ferritin concentration of 4010 mug/l, transferrin saturation of 85% and hepatic iron concentration of 27 900 mug/g dry weight. Molecula r genetics showed no mutation of the hemochromatosis gene HFE. After venese ction the ferritin concentration decreased, the loss of libido and subferti lity improved with testosterone administration. Conclusion: In subfertility from an endocrine disorder primary hemochromato sis should be considered in the differential diagnosis. Only early diagnosi s and prompt iron depletion may improve the prognosis of these patients.