NCT05631509

Genetic Study of Obstructive Azoospermia

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University · Academic / Other
• Sex: Male
• Age: 18 Years – 50 Years
• Healthy volunteers: Accepted

Summary

In 1% of men with infertility, obstructive azoospermia (OA) may occur in congenital absence of the vas (CAVD) or idiopathic obstructive azoospermia . Many studies have shown that the pathogenic genes of OA are CFTR and ADGRG2 genes, and the inheritance mode is autosomal recessive. Although the conventional assisted reproductive technology(PESA/TESA) can help these patients have children, male patients who carry mutations of the disease-causing genes (CFTR and ADGRG2) will also pass on their mutations to the next generation, which will increase the risk of male offspring infertility. Therefore, genetic detection of CFTR and ADGRG2 genes is very necessary for CAVD patients before assisted reproduction. Genetic diagnosis plays a key role in preventing the disease to the offspring.

Conditions

• Genetic Disease

Timeline

• Start date: 2021-07-01
• Primary completion: 2025-12-31
• Completion: 2025-12-31
• First posted: 2022-11-30
• Last updated: 2024-05-08

Locations

1 site across 1 country: China