Abstract:

Introduction: The human Y chromosome is essential for human sex determination and spermatogenesis. The long arm contains the azoospermia factor (AZF) region. Microdeletions in this region are responsible for male infertility.

Purpose: The aim of this study was to investigate the hypothesis that Y chromosome microdeletions are implicated in hypospadias.

Methods: Forty patients with different degrees of isolated hypospadias were screened for Y chromosome microdeletions.

Genomic DNA was isolated from blood and polymerase chain reaction was carried out with a set of 3 STS markers (sY86, sY127 and sY255) to detect the microdeletions as recommended by the European Academy of Andrology. As well as, SRY272 was used as internal control.

Results: All patients showed normal length amplifications for each of the regions evaluated, suggesting that microdeletions of the Y chromosome are not a frequent cause of isolated Hypospadias.

Conclusion: This fact suggests that patients with isolated hypospadias are rarely associated with genetic alterations. It would be more interesting to analyze other STS markers with larger samples.

Key words: Y chromosome, microdeletions, hypospadias.