DNA methylation profiling of peripheral blood samples is a promising new approach to screen for male infertility

Male infertility is a complex, multifactorial, and heterogeneous condition. In ∼15% of couples, infertility results from an identifiable genetic defect. However, in 40% of couples, male infertility is likely to be caused by an unknown genetic abnormality. Consequently, many men evaluated for infertility may not ultimately be diagnosed beyond the phenotype of their infertilit y, such as azoospermia or maturation arrest. Emerging research into the mechanisms underlying idiopathic male infertility promises new opportunities to provide these men with more specific diagnoses.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research

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CONCLUSIONS No significant association was found between ACE SNPs rs4316, rs4331, rs4343, or rs4362 and NOA in the Chinese Han population of Northeast China. PMID: 31198195 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Abstract AIM: To assess the association between azoospermia factor c microrearrangements and semen quality, and between Y-chromosome background with distinct azoospermia factor c microrearrangements and semen quality impairment. METHODS: This retrospective study, carried out in the Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov," involved 486 men from different ethnic backgrounds referred for couple infertility from 2002-2017: 338 were azoospermic/oligozoospermic and 148 were normozoospermic. The azoospermia factor c microrearrangements were analyzed with sequence tagge...
Source: Croatian Medical Journal - Category: General Medicine Authors: Tags: Croat Med J Source Type: research
Abstract An ideal animal model of azoospermia would be a powerful tool for the evaluation of spermatogonial stem cell (SSC) transplantation. Busulfan has been commonly used to develop such a model, but 30%-87% of mice die when administered an intraperitoneal injection of 40 mg kg-1. In the present study, hematoxylin and eosin staining, Western blot, immunofluorescence, and quantitative real-time polymerase chain reaction were used to test the effects of busulfan exposure in a mouse model that received two intraperitoneal injections of busulfan at a 3-h interval at different doses (20, 30, and 40 mg kg-1) on day 36...
Source: Asian Journal of Andrology - Category: Urology & Nephrology Authors: Tags: Asian J Androl Source Type: research
In this study, herbal sex enhancement supplements were bought from pharmaceutical shops in Port Harcourt, Nigeria, and analyzed for heavy metals (Cr, As, Co, Hg, Cd, and Pb) contents using atomic absorption spectroscopy. The estimated daily metal intake (EDImetal), target hazard quotients (THQ), and total target hazard quotients (TTHQ) were determined. All the herbal sex enhancers used in this study contained heavy metals in these ranges: lead (0.032-0593), cobalt (0.025-0.075), cadmium (0.0011-0.048), and chromium (0.016-0.49) mg/kg. About 24.32% of the samples had TTHQ greater than 1. The EDImetal, THQ, and TTHQ of herba...
Source: Environmental Science and Pollution Research International - Category: Environmental Health Authors: Tags: Environ Sci Pollut Res Int Source Type: research
ConclusionOur findings implicate Y-chromosomal genes, includingUSP9Y, UTY, TXLNGY, RBMY1B, RBMY1E, RBMY1J and TSPY4, some of which are known to be important for spermatogenesis, in the curative hormonal treatment of cryptorchidism-induced infertility.
Source: Basic and Clinical Andrology - Category: Urology & Nephrology Source Type: research
Abstract The proper assessment of male fertility is essential for diagnosing and treating male infertility. Currently, spermiogram and Johnsen testicular biopsy score counts are used to assess male fertility. However, spermiogram is not a suitable option for non-obstructive azoospermia patients, and Johnsen testicular biopsy scores only represent localized and not the overall spermatogenesis. Whole-mount staining was a novel method for evaluating protein expression in the tissue. Thus, we explored its application in human seminiferous tubules. Testicular biopsies from 57 azoospermia patients were categorized as ob...
Source: Tissue and Cell - Category: Cytology Authors: Tags: Tissue Cell Source Type: research
Abstract The stromal antigen 3 (STAG3) gene, encoding a meiosis-specific cohesin component, is a strong candidate for causing male infertility, but little is known about this gene so far. We identified STAG3 in patients with nonobstructive azoospermia (NOA) and normozoospermia in the Korean population. The coding regions and their intron boundaries of STAG3 were identified in 120 Korean men with spermatogenic impairments and 245 normal controls by using direct sequencing and haplotype analysis. A total of 30 sequence variations were identified in this study. Of the total, seven were exonic variants, 18 were intron...
Source: Asian Journal of Andrology - Category: Urology & Nephrology Authors: Tags: Asian J Androl Source Type: research
This study illustrated a spectrum of AZF-linked CNVs and presented valuable information for understanding the clinical significance of AZF-linked CNVs in male infertility.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Spermatogenesis is initiated when spermatogonial stem cells (SSCs) in the mature testes enter mitosis and trigger differentiation. Thus, spermatogenesis and the ability to maintain a continuous source of spermatogonia relies on the ability to differentiate SSCs. Many studies around the world have been performed to investigate the etiology of male infertility and recent studies have focused on the presence and identification of biomarkers. CD133 and CD24 are stem cell markers locating in the testis and spermatogonia. The aim of this study was to investigate the relationship of the CD133 and CD24 genes with...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Abstract AIM: To analyze the differences in the population of perivascular and peritubular Leydig cells (LC) and the number of Reinke's crystals (RCs) in the testicles of infertile men with non-obstructive and obstructive azoospermia. METHODS: This retrospective case-control study was conducted on the testicle tissue of infertile men with obstructive (n=10) and those with non-obstructive azoospermia (n=100). Stereological analysis was performed on 7-μm paraffin sections. Measurements were carried out by using the Weibel multipurpose test system. RESULTS: Patients with non-obstructive azoospermia had a...
Source: Croatian Medical Journal - Category: General Medicine Authors: Tags: Croat Med J Source Type: research
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