A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next ‐generation sequencing
Journal of Clinical Laboratory Analysis, EarlyView.
Conclusion: The testicular pool proved to be easily analyzable, practical, manageable, and more accurate for predicting sperm retrieval than standard testicular biopsy. PMID: 30538947 [PubMed]
Publication date: Available online 6 December 2018Source: African Journal of UrologyAuthor(s): M.S. Abdel-Kader, A.M. Hassan, M. AbdelRazekAbstractObjectivesTo compare the results of unilateral and bilateral subinguinal varicocelectomy for patients with primary infertility, including sperm parameters and pregnancy rate.Patients and methodThis a retrospective study including 91 men with primary subfertility with bilateral varicocelectomy. The patients were divided into two groups. Group A (46 patients) were subjected to bilateral varicocelectomy. Group B (45 patients) subjected to left varicocelectomy. Patients with unilate...
Conditions: Azoospermia; Oligozoospermia Interventions: Biological: Lipoaspiration and SVF introduction.; Drug: Standard therapy. Sponsor: State-Financed Health Facility " Samara Regional Medical Center Dinasty " Enrolling by invitation
Conditions: Azoospermia; Oligozoospermia Interventions: Biological: Liapoaspiration and SVF introduction.; Drug: Standard therapy. Sponsor: State-Financed Health Facility " Samara Regional Medical Center Dinasty " Enrolling by invitation
Genetic abnormalities could account for 10% to 15% of male infertility cases, so increasing attention is being paid to gene mutations in this context. DNAH1 gene polymorphisms are highly correlated with astheno-teratozoospermia, but limited information has been reported on pathogenic variations in DNAH1 in the Chinese population. We explored 4 novel variations of the DNAH1 gene in Chinese infertile patients. Mutation screening of the DNAH1 gene was performed on 87 cases of asthenozoospermia with targeted high-throughput sequencing technology; another 200 nonobstructive azoospermia cases were further analyzed to investigate...
Ejaculatory duct obstruction is a well-defined, potentially correctable cause of male infertility. It is diagnosed infrequently and is found in only up to 5% of infertile men (1). Male infertility due to ejaculatory duct obstruction is often secondary to azoospermia or, rarely, severe impairment of semen parameters even if some spermatozoa are present in the ejaculate. Because spermatogenesis is still normal in most of these men, surgical sperm retrieval for assisted reproduction with intracytoplasmic sperm injection is feasible and often is suggested as the first line of infertility management.
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ConclusionThe percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS.
To investigate the association between genetic variants in the major histocompatibility complex (MHC) region and nonobstructive azoospermia (NOA) susceptibility.
This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of theSRY gene was done, which ruled out...