Microdeletions of the Y chromosome in cryptorchidism and in idiopathic male infertility

摘要: We investigated the possible role of Y chromosome microdeletions in regions previously shown to be important for male germ cell development unilateral ex-cryptorchid subjects manifesting bilateral testiculopathy, order clarify whether cryptorchidism could expression an intrinsic congenital testicular abnormality. Microdeletion analysis long arm was performed by polymerase chain reaction and confirmed Southern blot 40 selected patients with azoospermia or severe oligozoospermia sustained testiculopathy (Sertoli cell-only syndrome hypospermatogenesis, respectively), 20 men moderate normal function descended testis, 110 affected idiopathic primary testiculopathies, and, as controls, 50 known causes fertile controls. Eleven out (27.5%) 28 (25.4%) showed arm, while all other were normal. Male relatives deletions also Microdeletions distributed different including involved spermatogenesis (DAZ RBM genes, AZFa, b c regions) still poorly defined loci. No difference localization evident between patients. may responsible damage: clinical consequence, than oligozoospermia, cryptorchidism, probably due altered responses mechanisms regulating descent.