High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

Our goal in the present work was to determine whether male patients with un treated hypogonadism have an increased risk of developing rheumatic/autoimm une disease (RAD), and, if so, whether there is a relation to the type of h ypogonadism. We carried out neuroendocrine, genetic, and rheumatologic inve stigations in 13 such patients and 10 healthy male 46,XY normogonadic contr ol subjects. Age and body mass index were similar in the two groups. Nine o f the 13 patients had hypergonadotropic hypogonadism (five of whom had Klin efelter's syndrome [karyotype 47,XXY]) and 4 of the 13 had hypogonadotropic hypogonadism (46,XY), Of these last four, two had Kallmann's syndrome and two had idiopathic cryptorchidism. Eight (61%) of the 13 patients studied had RADs unrelated to the etiology o f their hypogonadism. Of these, four had ankylosing spondylitis and histoco mpatibility, B27 antigen, two had systemic lupus erythematosus (in one case associated with antiphospholipids), one had juvenile rheumatoid arthritis, and one had juvenile dermatomyositis. In comparison with the low frequenci es of RADs in the general population (about 0.83%, including systemic lupus erythematosus, 0.03%; dermatomyositis, 0.04%; juvenile rheumatoid arthriti s, 0.03%; ankylosing spondylitis, 0.01%; rheumatoid arthritis, 0.62%; and o ther RAID, 0.1%), there were surprisingly high frequencies of such disorder s in this small group of patients with untreated hypogonadism (P < 0.001) a nd very low serum testosterone levels (P = 0.0005). The presence of RADs in these patients was independent of the etiology of their hypogonadism and w as associated with marked gonadal failure with very low testosterone levels .