Human Genetics

, Volume 65, Issue 2, pp 149–154

Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism

Authors

  • M. Cazzola
    • Dipartimento di Medicina Interna e Terapia MedicaUniversitá di Pavia
  • E. Ascari
    • Dipartimento di Medicina Interna e Terapia MedicaUniversitá di Pavia
  • G. Barosi
    • Dipartimento di Medicina Interna e Terapia MedicaUniversitá di Pavia
  • G. Claudiani
    • Ospedale di Atri
  • M. Daccó
    • Dipartimento di Medicina Interna e Terapia MedicaUniversitá di Pavia
  • J. P. Kaltwasser
    • Zentrum der Inneren Medizin, Abteilung für HämatologieJ. W. Goethe-Universität
  • N. Panaiotopoulos
    • Istituto Ortopedico “Gaetano Pini”
  • K. P. Schalk
    • Zentrum der Inneren Medizin, Abteilung für HämatologieJ. W. Goethe-Universität
  • E. E. Werner
    • Gesellschaft für Strahlen- und Umweltforschung
Original Investigations

DOI: 10.1007/BF00286653

Cite this article as:
Cazzola, M., Ascari, E., Barosi, G. et al. Hum Genet (1983) 65: 149. doi:10.1007/BF00286653

Summary

It is generally believed that idiopathic haemochromatosis is exclusively a disease of middle age, affecting primarily men. We describe here four cases of idiopathic haemochromatosis having onset of symptoms before or around the age of 20 years. Other similar cases have previously been reported. In this juvenile form, males and females appear to be equally affected. These subjects may have a history of unexplained abdominal pain, present with hypogonadotropic hypogonadism, and, unless proper treatment is started, die early because of cardiac dysfunction. In this regard, their clinical course is very similar to that of well-transfused thalassaemia major. Thus, early diagnosis is even more important in the juvenile form than in the adult form of idiopathic haemochromatosis. We suggest that evaluation of body iron stores should be performed as a screening procedure in young subjects with hypogonadotropic hypogonadism and/or cardiac dysfunction.

Copyright information

© Springer-Verlag 1983