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Background  Cryptorchidism is a frequent syndrome occurring in 1-2% of males within the first year of age. Autoimmune reactions, particularly directed to testicular elements and/or spermatozoa have been found to be often associated with cryptorchidism. Therefore we investigated in this study the frequency of HLA class II alleles in order to recognize possible genetic predisposition for antisperm antibodies development in prepubertal boys with diagnosed cryptorchidism in Caucasoid population.    Methods  Sixty prepubertal boys with cryptorchidism and sixty healthy boys were examined for anti-sperm antibodies by indirect immunobead test as well as for their  HLA-DRB1  and - DQB1  alleles using DNA obtained from peripheral blood leukocytes. The typing of  HLA-DRB1  and - DQB1  was performed by using PCR-SSP low resolution method.    Results  Allele frequencies of  HLA-DRB1  and  HLA-DQB1  did not differ between boys with cryptorchidism and control boys. However, weakly significant differences in  DRB1*04  ( p corrected  = 0.0475) and  DQB1*06  ( p corrected  = 0.0385) were seen between cryptorchid patients with and without AsA, but none of these two patient groups differed significantly in  HLA  class II frequencies from controls except for AsA-negatives and  HLA-DQB1*06  ( p corrected  = 0.0247). On the other hand, comparison of cryptorchid boys with familial cryptorchidism and/or infertility to control boys revealed highly significant ( p corrected  = 0.0006) difference in  HLA-DRB*11  frequency, whereas boys with sporadic cryptorchidism did not differ from control. A much weaker, but still significant difference in  DRB*11  frequency was also observed between boys with bilateral cryptorchidism and controls ( p corrected  = 0.037), whereas patients with unilateral cryptorchidism were not different from control in frequency of any  HLA-DRB1  or - DQB1  allele tested.    Conclusions  Predisposition to produce anti-sperm antibodies seems to be only weakly associated with  HLA  class II genes, although this question requires further study on much larger population sample. It is plausible that familial and sporadic cryptorchidism may present distinct genetic background. The same may, to lower extent, apply to bilateral and unilateral cryptorchidism.

reproductive biology and endocrinology

Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1polymorphisms in prepubertal Ukrainian boys