Do microdeletions in the AZF region of the Y chromosome accompany cryptorchidism in Turkish children?

Abstract

To investigate the presence of Y chromosome microdeletions in children with cryptorchidism. Male patients aged between 1 and 17 years, who had been diagnosed by physical examination to have cryptorchid testes, were included in the study. Microdeletions of 24 gene loci belonging to the AZF-a, AZF-b and AZF-c regions of the Y chromosome were examined by multiplex polymerase chain reaction (PCR) multiplication of the DNA sample extracted from peripheral leukocytes. Sixty-four patients with a mean age of 7.82+/-3.21 (range: 1-17) years were included in the study. There was unilateral cryptorchidism in 53.1% (34/64) of the patients and bilateral cryptorchidism in 46.8% (30/48) of the patients. No microdeletion of gene loci on the AZF-a, AZF-b and AZF-c regions of the Y chromosome was determined in any patient. Studies on Y chromosome microdeletions are important due to a potential for the transmission of genetic abnormalities to offspring. Assisted reproduction techniques may cause the transmission of genetic abnormalities to offspring because the physiological fertilisation mechanism is bypassed. It was found that there was probably no aetiologic correlation between microdeletions in gene loci on the AZF-a, AZF-b and AZF-c regions of the Y chromosome and cryptorchidism.