• PMID: 11153416
• Gene Name: HFE
• Condition: Decreased libido, erectile dysfunction
• Association: In subfertility from an endocrine disorder primary hemochromatosis should be considered in the differential diagnosis. Only early diagnosis and prompt iron depletion may improve the prognosis of these patients.
• Age: 24 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Decreased libido, erectile dysfunction

[A 24-year-old patient with decreased libido and erectile dysfunction as initial manifestations of hemochromatosis]

Berent R, Allinger S, Höbling W, Auer J, Knoflach P.

HISTORY AND CLINICAL FINDINGS: A 24 year old yugoslavian father of two children, complained of decreased libido and impotence since seven months. He also described recurrent joint pains in the knees and wrist joints. The urological and internal examination was unremarkable. INVESTIGATIONS: Except for slightly elevated liver enzymes and a mild thrombocytopenia the laboratory tests were normal. Testosteron, follicle stimulating hormone and luteinizing hormone concentrations were markedly decreased. Hepatosplenomegaly was demonstrated by ultrasound. TREATMENT AND COURSE: During testosteron administration for hypogonadotrophic hypogonadism erectile dysfunction improved. 9 months later the patient became diabetic and was referred to our department. Hemochromatosis was confirmed by serum ferritin concentration of 4010 micrograms/l, transferrin saturation of 85% and hepatic iron concentration of 27,900 micrograms/g dry weight. Molecular genetics showed no mutation of the hemochromatosis gene HFE. After venesection the ferritin concentration decreased, the loss of libido and subfertility improved with testosterone administration. CONCLUSION: In subfertility from an endocrine disorder primary hemochromatosis should be considered in the differential diagnosis. Only early diagnosis and prompt iron depletion may improve the prognosis of these patients. FAU - Berent, R AU - Berent R AD - II. Interne Abteilung mit Kardiologie, Allgemein Offentliches Krankenhaus, Barmherzigen Schwestern vom Heiligen Kreuz, Wels. FAU - Allinger, S AU - Allinger S FAU - Höbling, W AU - Höbling W FAU - Auer, J AU - Auer J