Idiopathic Hemochromatosis in a 45-Year-Old Infertile Man*

Abstract

The clinical manifestations of primary or idiopathic hemochromatosis include mainly hepatomegaly, diabetes mellitus, and hypogonadism. Most investigators postulated that the hypogonadism is caused by pituitary dysfunction and that the deposition of iron in the testes is of little importance. We found not only pituitary failure in a 45-year-old man with idiopathic hemochromatosis (low LH and FSH levels, no response to GnRH) but could also detect by light microscopy deposition of iron in capillary endothelial cells and in the perivascular space of the testicular tissue. Electron microscopic study of tissue from the testes showed intracytoplasmic hemosiderin deposits in capillary endothelial cells. Abundant lipofuscin granules were present in Sertoli cells and Leydig cells. The serum testosterone levels were low and there was no response in the HCG test. The intratesticular testosterone levels were also lowered. In our opinion, the androgenic deficiency in idiopathic hemochromatosis is not only caused by pituitary failure but also by testicular dysfunction due to deposits of hemosiderin and lipofuscin in the testes. ldiopathische Harnochromatose bei einem 45jahrigen unfruchtbaren MannZusammenfassung: Die klinischen Manifestationen der primaren oder idiopathischen Hamochromatose sind hauptsachlich Hepatomegalie, Diabetes mellitus und Hypogonadismus. Die meisten Untersucher nehmen an, dai3 der Hypogonadismus durch eine Storung der Hypophysenfunktion bedingt ist , und daB Eisenablagerungen in den Hoden von untergeordneter Bedeutung sind. Wir fiiden bei einem 45 Jahre alten Mann mit idiopathischer Hamochromatose nicht nur eine Hypophysenfehlfunktion (niedrige LH-und FSH-Werte, kein Ansprechen auf GnRH), sondern konnen auch lichtmikroskopisch Eisenablagerungen in Kapillarendothelzellen und im Perivaskularraum des Hodengewebes nachweisen. Die elektronenmikroskopische Untersuchung von Hodengewebsproben zeigt intrazytoplasmatische Hamosiderinablagerungen in Kapillarendothelzellen. In Sertoli-und in Leydigzellen sind massenhaft Lipofuszingranula vorhanden. Die Serum-Testosteronwerte sind erniedrigt und zeigen keinen Anstieg im HCG-Test. Auch die intratestikularen Testosteronwerte sind erniedrigt. Nach unserer Meinung ist das Androgendefiiit bei der idiopathischen Hamochromatose nicht nur auf eine Hypophysenfehlfunktion, sondem auch auf eine Funktionsstorung der Hoden durch dort abgelagertes Hamosiderin und Lipofuszin zuriickzufiihren.

Hypogonadotropic hypogonadism in men with hereditary hemochromatosis

“…Indeed, the iron deposition found in the testis suggested the potential involvement of testicular participation in the pathogenesis of hypogonadism associated with iron overload. These animal experimentations are in concordance with the case reported by Vogt et al [19]. They reported a case of a 45-year-old man presenting with hemochromatosis diagnosed 4 years earlier and consulting for a decreased libido and an erectile dysfunction suggesting hypogonadism.…”

“…The testicular histology was abnormal: maturation arrest at the spermatocyte stage was associated with an iron deposit in endothelial cells and perivascular spaces. Sertoli cells and Leydig cells contained no siderosomes but some lipofuscin, which is a pigment resulting from cell debris related to lysosomes aging in cases of cell sufferance [19]. However these testicular deposits appeared to be variable [20–22].…”

Effect of prolonged intake of iron enriched diet on testicular functions of experimental rats

“…It represents a hepatoprotective mechanism against CIO toxicity [10]. Decreased level of Testosterone in male suffering from idiopathic hemochromatosis was reported before [11]. Androgenic deficiency as mentionned there not only produced by pituitary failure but also by testicular dysfunction due to hemosiderin deposition in testes.…”