Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment

AbstractPurposeTo develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis.MethodsA total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel includingAR,FSHB,FSHR,KLHL10,NR5A1,NANOS1,SEPT12,SYCP3,TEX11 genes. Variants with minor allele frequency
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research

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Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. A total of 100 Han Chinese patients with NOA and 100 healthy men as controls were recruited. Targeted gene capture sequencing was performed. A total of 11 TAF4B SNPs were screened in the NOA and control subjects. Six synonymous and 4 nonsynonymous variants were detected. The c.11G>T (p.G4V) mutation was detected only in NOA...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Abstract MicroRNAs are small, non-coding, single-strand oligonucleotides which regulate gene expression. There is little evidence in the literature about their role in azoospermia and no studies have investigated their presence in the seminal plasma of men with Klinefelter syndrome. This retrospective study investigated if there were any differences in microRNA expression (miR-509-5p, miR-122-5p, miR-34b-3p, miR-34c-5p) in the seminal plasma of patients with obstructive azoospermia, non-obstructive azoospermia and Klinefelter syndrome. Hormone levels were also investigated to identify any correlations with microRN...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
In every surgical field, paradigm shifts occur through innovation in either surgical approach or technology, and in the most dramatic instances through a combination of the two. For male reproductive surgery, a prime example is the advent of microdissection testicular sperm extraction (microTESE), in which technology (the operative microscope) facilitated a novel approach —high-magnification search for seminiferous tubules with distinct appearance—that dramatically changed the treatment paradigm for men with nonobstructive azoospermia.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Inklings Source Type: research
Sperm identification during microdissection testicular sperm extraction (micro-TESE) for nonobstructive azoospermia (NOA) remains one of the greatest challenges in the surgical management of male factor infertility. The ability to successfully find sperm during micro-TESE is impacted by numerous factors: patient factors such as whether sperm is even present, laboratory processing techniques, person-hours spent searching for sperm, and the experience and expertise of the reproductive urology, embryology, and andrology team.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
CONCLUSION: Scrotal MRI is a very effective tool for the evaluation of azoospermic men and may provide important information facilitating interventional treatment of infertility. PMID: 32441653 [PubMed - as supplied by publisher]
Source: Diagnostic and Interventional Radiology : The Turkish Society of Radiology - Category: Radiology Authors: Tags: Diagn Interv Radiol Source Type: research
We report the following outcomes: (1) live birth rates in AID and IVF-D treatment for couples with severe male infertility factors and prior ICSI failures; (2) paternal impact on embryo development of the same oocyte cohort; (3) prognostic factors in obtaining a live birth with donor semen.ResultsOf 92 women with failed ICSI cycles (26 with multiple attempts), 45 couples underwent AID treatment. Live birth rate per cycle of AID was 18.9%. Fifty-three patients underwent IVF-D including 6 couples who previously did not conceive with AID. Embryological outcomes including fertilization, viable cleavage embryos, and blastocyst ...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
ConclusionsThe finding in our patient and the discussion on the reviewed literature support a possible role forUSP26 in male fertility.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Genetic Testing and Molecular Biomarkers, Ahead of Print.
Source: Genetic Testing and Molecular Biomarkers - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionsMiR ‐20a‐5p could represent a novel non‐invasive diagnostic biomarker of male infertility.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionThrough this study, we emphasize the necessity of a proper combination of high-throughput techniques with conventional cytogenetic and FISH methods. This could provide a personalized diagnostic and accurate results for the patients suffering from infertility or RPL. We also highlight FISH analyses, which are essential tools for detecting sSMC in infertile patients. In fact, despite its entire composition of heterochromatin, sSMC can have effects on spermatogenesis by producing mechanical perturbations during meiosis and increasing meiotic nondisjunction rate. This would contribute to understand the exact chromoso...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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