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Azoospermia

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https://www.readbyqxmd.com/read/28718531/next-generation-sequencing-for-patients-with-non-obstructive-azoospermia-implications-for-significant-roles-of-monogenic-oligogenic-mutations
#1
S Nakamura, M Miyado, K Saito, M Katsumi, A Nakamura, Y Kobori, Y Tanaka, H Ishikawa, A Yoshida, H Okada, K Hata, K Nakabayashi, K Okamura, H Ogata, Y Matsubara, T Ogata, H Nakai, M Fukami
Azoospermia affects up to 1% of adult men. Non-obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy-number variations (CNVs) have been identified in patients with non-obstructive azoospermia. The aim of this study was to clarify the contribution of nucleotide substitutions in known causative genes and submicroscopic CNVs in the genome to the development of non-obstructive azoospermia. To this end, we conducted sequence analysis of 25 known disease-associated genes using next-generation sequencing and genome-wide copy-number analysis using array-based comparative genomic hybridization...
July 2017: Andrology
https://www.readbyqxmd.com/read/28718159/the-role-of-varicocele-in-male-factor-subfertility
#2
REVIEW
Dillon Sedaghatpour, Boback M Berookhim
PURPOSE OF REVIEW: Varicocele may play a significant role in a subset of patients presenting with male factor infertility. Despite its relatively high prevalence amongst subfertile men, there has been controversy over the effectiveness of surgical treatments, patient selection, and when to administer treatment, particularly in the era of assisted reproductive technology. RECENT FINDINGS: In line with earlier finding, recent evidence strongly suggests that varicocelectomy improves pregnancy rates and semen parameters...
September 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28713994/molecular%C3%A2-cytogenetic-study-of-de-novo-mosaic-karyotype-45-x-46-x-i-yq-46-x-idic-yq-in-an-azoospermic-male-case-report-and-literature-review
#3
Yuting Jiang, Ruixue Wang, Linlin Li, Lintao Xue, Shu Deng, Ruizhi Liu
The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process...
July 14, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28703337/paternal-age-as-an-independent-factor-does-not-affect-embryo-quality-and-pregnancy-outcomes-of-testicular-sperm-extraction-intracytoplasmic-sperm-injection-in-azoospermia
#4
Y S Park, S H Lee, C K Lim, H W Choi, J H An, C W Park, H S Lee, J S Lee, J T Seo
This study was performed to evaluate the independent influence of paternal age affecting embryo development and pregnancy using testicular sperm extraction (TESE)-intracytoplasmic sperm injection (ICSI) in obstructive azoospermia (OA) and nonobstructive azoospermia (NOA). Paternal patients were divided into the following groups: ≤30 years, 31-35 years, 36-40 years, 41-45 years and ≥46 years. There were no differences in the rates of fertilisation or embryo quality according to paternal and maternal age...
July 13, 2017: Andrologia
https://www.readbyqxmd.com/read/28693243/rt-qpcr-for-phox2b-mrna-is-a-highly-specific-and-sensitive-method-to-assess-neuroblastoma-minimal-residual-disease-in-testicular-tissue
#5
Victoria Grèze, Justyna Kanold, Fanny Chambon, Pascale Halle, Anne-Sophie Gremeau, Nathalie Rives, Nadège Rouel, Bruno Pereira, Andrei Tchirkov, Florence Brugnon
Neuroblastoma (NB) is the most common type of extracranial solid tumor in children with a high prevalence in toddlers. For childhood cancer survivors, preservation of reproductive potential is an important factor for quality of life. The optimization of NB minimal residual disease (MRD) detection in testicular tissue is crucial to evaluate the risk of malignant cell reintroduction. The first step in the present study was to assess the accuracy of reverse transcription-quantitative polymerase chain reaction (RT-qPCR) to detect tyrosine hydroxylase (TH), paired-like homeobox 2b (PHOX2B) and doublecortin (DCX) mRNA expression in frozen/thawed testicular tissues of patients with non-obstructive azoospermia (NOA) contaminated (in vitro model) with an increasing number of IMR-32 and SK-N-SH NB cells...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28671268/microsurgical-varicocelectomy-for-clinical-varicocele-a-review-for-potential-new-indications
#6
REVIEW
X Wan, H Wang, Z Ji
Microsurgical varicocelectomy is considered the gold-standard technique treating varicocele in both adults and adolescents, due to relatively more favourable outcomes and lower post-operative recurrence and complication rates. Despite of mounting literature on this topic, several aspects are still not well defined. We summarised the most recent literature and presented findings that might extend its indications. Microsurgical varicocelectomy and intracytoplasmic sperm injection are both effective to father a child for infertile men with clinical varicocele even for those with worst condition of spermatozoa, nonobstructive azoospermia, and prior varicocele repair has substantial benefits for couples with a clinical varicocele...
July 3, 2017: Andrologia
https://www.readbyqxmd.com/read/28670430/sperm-retrieval-in-patients-with-klinefelter-syndrome-a-skewed-regression-model-analysis
#7
Mohammad Chehrazi, Abbas Rahimiforoushani, Marjan Sabbaghian, Keramat Nourijelyani, Mohammad Ali Sadighi Gilani, Mostafa Hoseini, Samira Vesali, Mehdi Yaseri, Ahad Alizadeh, Kazem Mohammad, Reza Omani Samani
BACKGROUND: The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed to evaluate skewed regression model analysis for data collected from microsurgical testicular sperm extraction (micro-TESE) among azoospermic patients with and without non-mosaic KS syndrome...
July 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28670429/tumor-necrosis-factor-alpha-308-g-a-single-nucleotide-polymorphism-and-risk-of-sperm-abnormalities-in-iranian-males
#8
Maryam Khademi Bami, Masoud Dehghan Tezerjani, Fateme Montazeri, Hamid Reza Ashrafzadeh Mehrjardi, Saeed Ghasemi-Esmailabad, Mohammad Hasan Sheikhha, Seyed Mehdi Kalantar
BACKGROUND: Signaling molecules such as cytokines regulate spermatogenesis during the maturation of germ cells and sperm apoptosis. Tumor necrosis factor alpha (TNFα) is one of the most-documented cytokines that is involved in spermatogenesis. We investigated the association of the TNFα -308 G/A single nucleotide polymorphism with sperm abnormalities in Iranian males. MATERIALS AND METHODS: This case-control study included 180 infertile men who re- ferred to Yazd Research and Clinical Center for Infertility and 100 healthy normospermic controls...
July 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28666718/performance-of-microbiological-serological-molecular-and-modified-seminal-plasma-methods-in-the-diagnosis-of-brucella-abortus-in-semen-and-serum-of-bovine-bulls
#9
G Nardi Júnior, J Megid, L A Mathias, L Paulin, A F Vicente, A Cortez, F J P Listoni, G H B Lara, R G Motta, M G M Chacur, F M Monteiro, M G Ribeiro
Brucellosis remains as a major infectious disease of domestic animals and is considered a re-emerging zoonosis in several countries. B. abortus infections in bulls are related to reproductive tract infections, although infected animals show transient serological titers or nonreactor status. Thus, diagnosis of bovine brucellosis based exclusively on serological tests probably underestimates B. abortus infections in bulls. In this scenario, three hundred thirty-five serum samples from reproductively mature bovine bulls were subjected simultaneously to standard serodiagnosis using the rose Bengal test (RBT), 2-mercaptoethanol (2-ME), complement fixation (CFT), and fluorescence polarization assay (FPA)...
June 27, 2017: Biologicals: Journal of the International Association of Biological Standardization
https://www.readbyqxmd.com/read/28666211/carnitine-organic-cation-transporter-2-octn2-contributes-to-rat-epididymal-epithelial-cell-growth-and-proliferation
#10
Dong Li, Jiumin Liu, Wei Du, Huang Liu, Weilin Xiao, Xiaosong Song, Zhaoying Fan, Chuangbo Ke, Qiangguo Yu, Weibing Qin, Yunge Tang, Xiaoyong Pu
Carnitine/organic cation transporter 2 (OCTN2) is localized at the basolateral membrane of epididymal epithelial cells, and mainly serves to reabsorb carnitine as an essential factor for sperm maturation; however, its functional features in epididymal epithelial cells have remained unclear. We isolated primary epididymal epithelial cells from rat epididymides and verified their phenotype by detecting the presence of cytokeratin-19 (CK-19, an epithelial cell marker) and the absence vimentin (an interstitial cell marker)...
June 27, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28659371/mild-androgen-insensitivity-syndrome-mais-the-identification-of-c-1783c-t-mutation-in-two-unrelated-infertile-men
#11
Ghalia Abou Alchamat, Ammar Madania, Marwan Alhalabi
Two unrelated men complaining of primary male infertility presented to Orient Hospital in Damascus city. Physical examination showed moderate hypoandrogenic features. Both men were azoospermic. Hormone profiles revealed an elevation of follicle-stimulating hormone in one patient, but all the other hormones tested were within normal limits for both patients. Further genetic analyses, including karyotype and microdeletions in the AZF region of the Y chromosome, were normal in both patients. Mild androgen insensitivity syndrome was expected in the two patients...
June 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28656231/cytogenic-and-molecular-studies-of-male-infertility-in-cases-of-y-chromosome-balanced-reciprocal-translocation
#12
Ding Wang, Rui Chen, Shu Kong, Qian-Ying Pan, Yu-Hong Zheng, Wen-Jun Qiu, Yong Fan, Xiao-Fang Sun
Y-autosomal translocation has been previously reported in association with male infertility; however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization (FISH) were performed to analyze the translocation of chromosomes, and a single nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present study describes three new cases with a de novo balanced translocation t(Y;13), t(Y;9) and t(Y;6)...
August 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28642479/a-genetically-enhanced-sterile-insect-technique-against-the-fruit-fly-bactrocera-dorsalis-hendel-by-feeding-adult-double-stranded-rnas
#13
Muhammad Waqar Ali, Wenping Zheng, Summar Sohail, Qingmei Li, Weiwei Zheng, Hongyu Zhang
RNAi based sterile insect technique (SIT) is an authentic insect management approach but requires proper target genes. During this study, spermless males were developed by interfering with germ cell differentiation and azoospermia related genes. Data demonstrates significant reductions in the target genes expressions (boul, zpg, dsx (M) , fzo and gas8) after oral dsRNAs administration. Knock down of target genes significantly affected the reproductive ability of males and reduced egg-hatching as compared to the control group...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28635411/single-nucleotide-polymorphisms-in-the-human-rad21l-gene-may-be-a-genetic-risk-factor-for-japanese-patients-with-azoospermia-caused-by-meiotic-arrest-and-sertoli-cell-only-syndrome
#14
Gaku Minase, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Mikio Namiki, Kazuo Sengoku
Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28627638/meiotic-defects-and-decreased-expression-of-genes-located-around-the-chromosomal-breakpoint-in-the-testis-of-a-patient-with-a-novel-46-x-t-y-1-p11-3-p31-translocation
#15
Guangyuan Li, Furhan Iqbal, Liu Wang, Zhipeng Xu, Xiaoyan Che, Wen Yu, Liang Shi, Tonghang Guo, Guixiang Zhou, Xiaohua Jiang, Huan Zhang, Yuanwei Zhang, Dexin Yu
Balanced translocations are known to be associated with infertility, spontaneous abortions and birth defects in mammals. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46,X,t(Y;1)(p11.3;p31) carrier. Histological examination of testicular sections revealed a severely reduced number of germ cells with no spermatids or sperm in the carrier. A significant reduction in XY recombination was observed in the patient...
June 14, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28614535/should-azoospermic-patients-with-varicocele-disease-undergo-surgery-to-recover-fertility
#16
Leonardo de Souza Alves, Francisco Batista de Oliveira
Introduction: Varicocele disease is well-known cause of infertility in men. The presence of spermatic varices veins create a hostile environment to spermatogenesis. It results in reduced quality of the sperm production and in some cases can determine a total absence of sperm. The varicocelectomy procedure in patients with non-obstructive azoospermia (NOA) can raise the rates of sperm in the semen analysis. A positive rate for sperm, even if very low, may be sufficient to enable the capture of sperm intended for in-vitro fertilization without the use of donor sperm...
April 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#17
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#18
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28601348/genetic-diagnostics-of-male-infertility-in-clinical-practice
#19
REVIEW
Ryan Flannigan, Peter N Schlegel
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28597829/urogenital-infection-as-a-risk-factor-for-male-infertility
#20
Hans-Christian Schuppe, Adrian Pilatz, Hamid Hossain, Thorsten Diemer, Florian Wagenlehner, Wolfgang Weidner
BACKGROUND: Infections of the genital tract are considered common causes of male fertility disorders, with a prevalence of 6-10%. Most of the affected men are asymptomatic. The diagnostic evaluation is based mainly on laboratory testing. Inconsistent diagnostic criteria have been applied to date, and this may explain the controversial debate about the role of infection and inflammation in the genital tract as a cause of infertility. The risk of an irreversible fertility disorder should not be underestimated...
May 12, 2017: Deutsches Ärzteblatt International
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