Abstract

Aim: Cryptorchidism is the most frequent abnormality seen in the male reproduction system. Cryptorchidism occurs bilaterally in 10–15% of the cases. Bilateral and unilateral types of cryptorchidism are well known causes of impaired spermatogenesis. The aetiology of cryptorchidism is probably multifactorial. The patients have normal sperm production. Azoospermia factors which are responsible from the microdeletions of Y, manifest the genetic basis of cryptorchidism. The genetic aetiology of cryptorchidism has been proposed especially because of the familial repeats. The aim of this study is to determine if there is Y chromosome microdeletions in cryptorchid brothers and if there is an aetiological role of Y chromosome microdeletions in families with cryptorchidism.

Material Method: Three brothers applied to Firat Medical Center, Department of Medical Genetics because of cryptorchidism. Karyotype analysis were performed for the patients by conventional cytogenetic methods. To determine the Y chromosome microdeletions, molecular analysis was performed by using deletion specific PCR.

Results: The karyotypes and molecular analyses were normal.

Conclusion: Cryptorchidism in three brothers make us think a genetic basis for the aetiology. But the normal results show that enviromental causes are also efficient in multifactorial inherited cryptorchidism. Other genes must also be taken into consideration in the aetiology of cryptorchidism.

Key Words: Cryptorchidism, Mutation, Chromosomal Anomaly.