Meiotic arrest at first spermatocyte level: a new inherited infertility disorder

Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizing(LH) and normal to elevated follicle-stimulating (FSH) hormones, positive gonadotropin pituitary response to luteinizing hormone-releasing hormone, depletion of LH and FSH levels by exogenous testosterone (T) administration, normal levels of T and dihydrotestosterone hormones, and elevation of T after stimulation with human chorionic gonadotropin hormone. Electrophoretic assay of lactic dehydrogenase isozymes did not reveal band C4 in semen or testicular tissue. These traits seem to constitute a hitherto undescribed form of infertility in which spermatogenesis arrest at the first spermatocyte level is the main feature. The parental consanguinity suggests autosomal recessive inheritance.