Investigation of Y chromosome microdeletions in algerian children with hypospadias

Hypospadias is a congenital condition where the urethral opening is located on the underside of the penis instead of at the tip. The Y chromosome, particularly the Azoospermia Factor (AZF) loci, plays a crucial role in male sexual development. Microdeletions in this region have been implicated in male infertility and hypothesized to contribute to congenital malformations like hypospadias. However, the relationship between Y chromosome microdeletions and hypospadias remains unclear, prompting further investigation. The study aimed to investigate the presence of Y chromosome microdeletions in Algerian patients with hypospadias and compare these findings to a control group, to assess whether these genetic anomalies contribute to the development of this condition.

This study included 110 Algerian patients with hypospadias, aged between 1 month and 12 years, and a control group of 40 male children without hypospadias or other genitourinary anomalies. Both were recruited from pediatric surgery and endocrinology departments and included both isolated and non-isolated forms of hypospadias. Genomic DNA was extracted from peripheral leukocytes, and PCR analysis was performed to detect microdeletions in six AZF loci: sY84 and sY86 for AZFa, sY127 and sY134 for AZFb, and sY254 and sY255 for AZFc.

No Y chromosome microdeletions were detected in any of the 110 hypospadias patients or the 40 controls. Stratification by severity revealed significant associations between severe hypospadias and adverse perinatal outcomes, such as intrauterine growth restriction (IUGR), low birth weight, and preterm birth.

The absence of Y chromosome microdeletions in both hypospadias patients and controls suggests these anomalies are unlikely to play a primary role in the development of hypospadias in this population. This highlights the need to investigate other genetic, environmental, or epigenetic factors that may contribute to this condition. Future research should integrate advanced genomic techniques and broader analyses to better understand the aetiology of hypospadias.