The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies

ConclusionsIn Europe and North America, the majority of YCMs occur in men with sperm concentrations of ≤1 million sperm/ml, with 1 million sperm/ml. Male infertility guidelines for North America and Europe should reconsider the sperm concentration screening thresholds to recommend testing for YCMs only for men with sperm concentrations of 1 million sperm/ml. Routine screening for YCMs should occur only if sperm concentration is ≤1 million sperm/ml.
Source: European Urology - Category: Urology & Nephrology Source Type: research

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Publication date: Available online 21 January 2020Source: European UrologyAuthor(s): Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward
Source: European Urology - Category: Urology & Nephrology Source Type: research
Publication date: Available online 21 January 2020Source: European UrologyAuthor(s): Alberto Ferlin
Source: European Urology - Category: Urology & Nephrology Source Type: research
AbstractNon-obstructive azoospermia accounts for 10 –15% of male infertility, resulting in 60% of all cases of azoospermia and affecting about 1% of the male population. About 30% of these cases are due to Y chromosome microdeletions, chromosome abnormalities, or hormonal disorders. Pathogenic variants in genes on the sex chromosomes have key roles in spermatogenic failure. The co-occurrence of azoospermia and congenital cataracts ranges between 1 in 165,000 and 1 in 500,000. Our 28-year-old patient with normal intelligence and abnormally shaped teeth presented with both disorders. A microarray revealed a microdeleti...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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Source: Systems Biology in Reproductive Medicine - Category: Sexual Medicine Authors: Source Type: research
Abstract Infertility is one of the major health-threatening problems in communities which may lead to psychological problems among couples. Y chromosome abnormalities and microdeletions have recently been considered as one of the male infertility factors. The aim of this study was to evaluate different chromosomal disorders and azoospermia factor b (AZFb), AZFc and AZFd microdeletions in idiopathic non-obstructive oligo or azoospermia infertile men. One hundred infertile (78 azoospermia and 22 oligospermia) and 100 fertile men were included in this study. Luteinizing hormone (LH) and follicle stimulating hormone (...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion. PMID: 31603142 [PubMed - as supplied by publisher]
Source: Asian Journal of Andrology - Category: Urology & Nephrology Authors: Tags: Asian J Androl Source Type: research
Conclusion: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Trial/Experimental Study Source Type: research
Abstract The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromoso...
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research
Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. Patient concerns: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. Diagnosis: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microa...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Alla S. Koltsova1,2, Anna A. Pendina1, Olga A. Efimova1*, Olga G. Chiryaeva1, Tatyana V. Kuznetzova1 and Vladislav S. Baranov1,2 1D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia 2Department of Genetics and Biotechnology, Saint Petersburg State University, Saint Petersburg, Russia In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introdu...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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