Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

ConclusionOur study, in which compound heterozygous variants were identified in two pedigrees, provides more familial evidence that only recessive variants (homozygous or compound heterozygous) inCFTR cause CBAVD. Furthermore, whole exome sequencing may be utilized as a useful tool for mutation screening of genes causing CBAVD.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Azoospermia, or the absence of spermatozoa in the semen, is present in up to 10% of men presenting with infertility. The majority of these men will have nonobstructive azoospermia (NOA), or impaired production of sperm. When present, testicular sperm can be used with in  vitro fertilization and intracytoplasmic sperm injection to achieve fertility. One of the most effective treatment options to obtain testicular sperm is microsurgical testicular sperm extraction (micro-TESE). Reported rates of successful sperm retrieval with micro-TESE range from 40% to 60%.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
ConclusionOur findings may broaden the mutation spectrum ofCFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant intrans ofCFTR can cause vas deferens malformation.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Abstract The aim of this study was to evaluate the predictive value of factors in infertile male patients to retrieve sperm from their testicles before they undergo testicular sperm extraction (TESE). In total, 64 males were enrolled in this study. Infertility was identified as obstructive azoospermia (OA); non-obstructive azoospermia (NOA); Klinefelter syndrome (KS); and cryptozoospermia (Crypt). Age, body mass index and concomitant conditions were noted. Testicular volumes, serum levels of Follicle-Stimulating Hormone (FSH), Luteinizing Hormone (LH), testosterone (T) and prolactin were investigated. Sperm retrie...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med 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
AbstractBackgroundOxidative stress (OS) is one of the most prevalent causes of sperm damage, through the toxic effects of endogenously generated hydrogen peroxide, superoxide anion and hydroxyl radicals. Peripheral leukocytes represent a feasible model for studying the pathophysiology of OS ‐mediated homeostasis, which can be responsible for cell dysfunction and cell injury.ObjectiveTo evaluate the redox status in patients with non ‐obstructive azoospermia (NOA), establishing the potential role exerted by reactive oxygen species (ROS) in the genesis of testicular secretory injury.Material and MethodsFrom May 2018 to Ma...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Original Article 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
Publication date: Available online 8 October 2019Source: Best Practice &Research Clinical Obstetrics &GynaecologyAuthor(s): Bonnie L. BermasAbstractResearch into the safety of medications used to treat rheumatic diseases in men wishing to conceive is lacking. When evaluating medication safety for potential fathers, there are two major reproductive issues to consider first whether a drug induces infertility and second whether a drug can cause adverse pregnancy outcomes. Cyclopshophamide is the only medication used in rheumatic disease management that causes irreversible infertility. All men prescribed cyclophosphami...
Source: Best Practice and Research Clinical Obstetrics and Gynaecology - Category: OBGYN Source Type: research
Conclusion: Our modified technique of microsurgical longitudinal intussusception VE using epididymal adventitial stitch showed a reasonable patency rate after surgery.
Source: Urology Annals - Category: Urology & Nephrology Authors: Source Type: research
Spermiogenesis is a complex cellular differentiation process that the germ cells undergo a distinct morphological change, and the protamines replace the core histones to facilitate chromatin compaction in the sperm head. Recent studies show the essential roles of epigenetic events during the histone-to-protamine transition. Defects in either the replacement or the modification of histones might cause male infertility with azoospermia, oligospermia or teratozoospermia. Here, we summarize recent advances in our knowledge of how epigenetic regulators, such as histone variants, histone modification and their related chromatin ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells 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
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