خبن الصبغي Y لدى مرضى انعدام النطاف و علاقته مع الإنطاف

الملخص EN

Background& Objective: Microdeletions of the Y-chromosome removing the azoospermia factor (AZF) region are the most frequent molecular genetic cause of spermatogenic failure.

Although there is still no definitive consensus on the relationship between the type of microdeletion and the resulting sperm defect, microdeletions in AZFa lead mostly to Sertoli cell only syndrome, mutations in AZFb provoke interruption in meiosis I and mutations in AZFc result in hypospermatogenesis.

Our objective is to evaluate the frequency and types of Y-chromosome microdeletions in patients with idiopathic nonobstructive azoospermia (NOA) and its relationship with successful sperm retrieval.

Materials & Methods: Study design: cross sectional study.

Participants: 393 males with NOA.

Duration: from February 2009 to February 2012.

Setting: Department of anatomy, histology and embryology – Damascus University, and Orient Hospital.

Clinical Intervention(s): Semen analysis, karyotype, Y-chromosome microdeletion testing by polymerase chain reaction (PCR) and testicular sperm extraction (TESE).

Results: The frequency of Y-chromosome microdeletions was 14% (55/393), and microdeletion in the AZFb region were the most prevalent 49.1% (27/55), followed by the AZFc, ADFd and AZFa.

Spermatozoa were retrieved in 11 cases (57.9%) of microdeletions in AZFc region, and were absent in all other microdeletions.

Therefore, the presence of an AZFc microdeletion was associated with increased likelihood of sperm retrieval.

Conclusion: The high prevalence of Y-chromosome microdeletions (14%) in our study strongly suggests the need for routine molecular genetic testing and counseling prior to assisted reproduction in idiopathic NOA, interestingly the successful sperm retrieval was only found in microdeletions located in sub-region of azoospermia factor (AZFc).