Systemic Lupus Erythematosus and Klinefelter’s Syndrome

Abstract

Systemic lupus erythematosus (SLE) is more frequent in women than in men, and its highest incidence in women occurs during the reproductive age whereas occurrence in men is more uniformly scattered between age groups (Harvey et al. 1954; Masi and Kaslow 1978). Thus sex and the hormonal factors related to it seem to be relevant to the pathogenesis of SLE and this notion has been strengthened by findings of abnormal estrogen metabolism in SLE patients, both male and female (Lahita et al. 1979), of modifications in the course of SLE by estrogen medications (Jungers et al. 1982), and of the influence hormonal and/or gonadal manipulation has during the course of the disease in NZB/NZW F₁ hybrid mice (an animal model of SLE) (Roubinian et al. 1979). Occurrence of SLE in patients with Klinefelter’s syndrome has therefore been considered to have potentially important pathogenetic implications, particularly since it was found that patients with this association have abnormalities in estrogen metabolism (Stern et al. 1977).