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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
#1
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
#2
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
#3
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/28611311/genome-wide-5-hydroxymethylcytosine-patterns-in-human-spermatogenesis-are-associated-with-semen-quality
#4
Olga A Efimova, Anna A Pendina, Andrei V Tikhonov, Sergey E Parfenyev, Irina D Mekina, Evgeniia M Komarova, Mariia A Mazilina, Eugene V Daev, Olga G Chiryaeva, Ilona A Galembo, Mikhail I Krapivin, Oleg S Glotov, Irina S Stepanova, Svetlana A Shlykova, Igor Yu. Kogan, Alexander M Gzgzyan, Tatyana V Kuznetzova, Vladislav S Baranov
We performed immunofluorescent analysis of DNA hydroxymethylation and methylation in human testicular spermatogenic cells from azoospermic patients and ejaculated spermatozoa from sperm donors and patients from infertile couples. In contrast to methylation which was present throughout spermatogenesis, hydroxymethylation was either high or almost undetectable in both spermatogenic cells and ejaculated spermatozoa. On testicular cytogenetic preparations, 5-hydroxymethylcytosine was undetectable in mitotic and meiotic chromosomes, and was present exclusively in interphase spermatogonia Ad and in a minor spermatid population...
June 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#5
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/28569117/testicular-ultrasensitive-doppler-preliminary-experience-a-feasibility-study
#6
Laurence Rocher, Jean-Luc Gennisson, Sophie Ferlicot, Aline Criton, Laurence Albiges, Vincent Izard, Marie France Bellin, Jean-Michel Correas
Background Ultrasensitive Doppler is a novel non-invasive ultrasound (US) Doppler technique that improves sensitivity and resolution for the detection of slow flow. Purpose To investigate the feasibility of ultrasensitive Doppler (USD) for testicular disease diagnosis, using both qualitative and quantitative results. Material and Methods This prospective study was conducted in 160 successive men referred for scrotal US including B-mode and conventional Color-Doppler. A new USD sequence and algorithm dedicated to academic research were implemented into the US system...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28554943/spink2-deficiency-causes-infertility-by-inducing-sperm-defects-in-heterozygotes-and-azoospermia-in%C3%A2-homozygotes
#7
Zine-Eddine Kherraf, Marie Christou-Kent, Thomas Karaouzene, Amir Amiri-Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin-Seifer, Michael J Mitchell, Catherine Metzler-Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry-Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet-Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these findings, we observed that homozygous Spink2 KO male mice had azoospermia. Moreover, despite normal fertility, heterozygous male mice had a high rate of morphologically abnormal spermatozoa and a reduced sperm motility...
May 29, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28540235/improvement-of-motility-after-culture-of-testicular-spermatozoa-the-effects-of-incubation-timing-and-temperature
#8
Akram Hosseini, Mohammad Ali Khalili
BACKGROUND: Sperm motility is the reliable parameter that roles in success of intracytoplasmic sperm injection (ICSI), especially in azoospermia. Selection of appropriate culture duration, temperature and media for enhancing the sperm motility is an important issue in assisted reproduction program. The aim was to evaluate the sperm motion characteristics after culturing of testicular sperm extraction (TESE) samples at different temperatures and time intervals. METHODS: In this prospective study, 27 TESE samples were collected from young azoospermic patients...
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28536242/mutation-in-tdrd9-causes-non-obstructive-azoospermia-in-infertile-men
#9
Maram Arafat, Iris Har-Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Maram Abofoul-Azab, Victor Dyomin, Val C Sheffield, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
BACKGROUND: Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%-20% of infertile males. Non-obstructive azoospermia (NOA) is characterised by the absence of sperm due to either a Sertoli cell-only pattern, maturation arrest, hypospermatogenesis or mixed patterns. NOA is a severe form of male infertility, with limited treatment options and low fertility success rates. In the majority of patients, the cause for NOA is not known and mutations in only a few genes were shown to be causative...
May 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28521575/high-frequency-of-de-novo-daz-microdeletion-in-sperm-nuclei-of-subfertile-men-possible-involvement-of-genome-instability-in-idiopathic-male-infertility
#10
Hossein Mozdarani, Pegah Ghoraeian, Sohail Mozdarani, Parvin Fallahi, Anahita Mohseni-Meybodi
The occurrence and diagnosis of Y-chromosome microdeletions, specifically deletions of the DAZ (Deleted in Azoospermia) genes are an important issue in male infertility. Screening Y chromosome microdeletion is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there is some evidence indicating that presence of DAZ in somatic cells might not be indicative of its presence in the germ cell lineage. Therefore, a total of 130 men with poor semen quality were examined for presence of DAZ microdeletion in their leukocytes...
May 19, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28486688/risk-of-diabetes-according-to-male-factor-infertility-a-register-based-cohort-study
#11
Clara Helene Glazer, Jens Peter Bonde, Aleksander Giwercman, Ditte Vassard, Anja Pinborg, Lone Schmidt, Elvira Vaclavik Bräuner
STUDY QUESTION: Is male factor infertility associated with an increased risk of developing diabetes? SUMMARY ANSWER: The study provides evidence that male factor infertility may predict later occurrence of diabetes mellitus with the risk being related to the severity of the underlying fertility problem. WHAT IS KNOWN ALREADY: Previous cross-sectional studies have shown an increased prevalence of comorbidities among infertile men when compared to controls...
May 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28456834/spermatogenic-failure-and-the-y-chromosome
#12
REVIEW
C Krausz, E Casamonti
The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most frequent known molecular causes of impaired spermatogenesis (5-10% of azoospermic and 2-5% of severe oligozoospermic men). Testing for this deletion has both diagnostic and prognostic value for testicular sperm retrieval in azoospermic men...
May 2017: Human Genetics
https://www.readbyqxmd.com/read/28450650/y-chromosomal-microdeletion-in-idiopathic-azoospermic-and-severe-oligozoospermic-indonesian-men
#13
Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher
AIM: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. METHODS: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities...
January 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/28440964/effect-of-b9-and-b12-vitamin-intake-on-semen-parameters-and-fertility-of-men-with-mthfr-polymorphisms
#14
R Najafipour, S Moghbelinejad, A Aleyasin, A Jalilvand
The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants...
April 25, 2017: Andrology
https://www.readbyqxmd.com/read/28401488/a-no-stop-mutation-in-mageb4-is-a-possible-cause-of-rare-x-linked-azoospermia-and-oligozoospermia-in-a-consanguineous-turkish-family
#15
Ozlem Okutman, Jean Muller, Valerie Skory, Jean Marie Garnier, Angeline Gaucherot, Yoni Baert, Valérie Lamour, Munevver Serdarogullari, Meral Gultomruk, Albrecht Röpke, Sabine Kliesch, Viviana Herbepin, Isabelle Aknin, Moncef Benkhalifa, Marius Teletin, Emre Bakircioglu, Ellen Goossens, Nicolas Charlet-Berguerand, Mustafa Bahceci, Frank Tüttelmann, STéphane Viville
PURPOSE: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases. METHODS: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; two of the triplets were infertile as well as one younger infertile brother. Whole exome sequencing (WES) performed on two azoospermic brothers identified a mutation in the melanoma antigen family B4 (MAGEB4) gene which was confirmed via Sanger sequencing and then screened for on control groups and unrelated infertile subjects...
May 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28364784/tty2-genes-deletions-as-genetic-risk-factor-of-male-infertility
#16
F Shaveisi-Zadeh, R Alibakhshi, R Asgari, Z Rostami-Far, M Bakhtiari, H Abdi, A Movafagh, R Mirfakhraie
Y chromosome has a number of genes that are expressed in testis and have a role in spermatogenesis. TTY2L12A and TTY2L2A are the members of testis transcript Y2 (TTY2) that are Y linked multi-copy gene families, located on Yp11 and Yq11 loci respectively. The aim of this study was to investigate frequency of TTY2L12A and TTY2L2A deletions in azoospermic patients compared with fertile males. This study was performed on 45 infertile males with idiopathic azoospermia without any AZF micro deletions (group A), 33 infertile males with azoospermia which do not screened for AZF micro deletions (group B) and 65 fertile males (group C), from October 2013 to April 2015 in west of Iran...
February 28, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28331619/processing-and-selection-of-surgically-retrieved-sperm-for-icsi-a-review
#17
Greta Verheyen, Biljana Popovic-Todorovic, Herman Tournaye
Although the technique of intracytoplasmic sperm injection (ICSI) has been a revolution in the alleviation of male infertility, the use of testicular sperm for ICSI was a formerly unseen breakthrough in the treatment of the azoospermic man with primary testicular failure. At the clinical level, different procedures of testicular sperm retrieval (conventional TESE, micro-TESE, FNA/TESA, MESA, PESA) are being performed, the choice is mainly based on the cause of azoospermia (obstructive versus non-obstructive) and the surgeon's skills...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28296202/dna-methylation-imprinting-errors-in-spermatogenic-cells-from-maturation-arrest-azoospermic-patients
#18
P I Marques, S Fernandes, F Carvalho, A Barros, M Sousa, C J Marques
Imprinting errors have been described in spermatozoa from infertile patients with oligozoospermia and azoospermia. However, little is known about methylation of imprinted genes in other spermatogenic cells from azoospermic patients. Therefore, we aimed to evaluate the methylation status of single CpGs located in the differentially methylated regions (DMRs) of two imprinted genes, one paternally (H19) and one maternally (MEST) methylated, in primary spermatocytes of azoospermic patients presenting complete (MAc, n = 7) and incomplete (MAi, n = 8) maturation arrest, as well as in other spermatogenic cells from MAi patients that presented focus of complete spermatogenesis in some seminiferous tubules...
May 2017: Andrology
https://www.readbyqxmd.com/read/28289609/the-regenerative-effect-of-bone-marrow-derived-stem-cells-in-spermatogenesis-of-infertile-hamster
#19
Akbar Vahdati, Alireza Fathi, Mehrdokht Hajihoseini, Ghaem Aliborzi, Ebrahim Hosseini
BACKGROUND: Infertility is a serious social problem in advanced nations, with male factor in half of all cases of infertility. This study was conducted to determine the regenerative effect of bone marrow-derived stem cells in spermatogenesis of infertile hamster. METHODS: Twelve adult male hamsters were equally divided into azoospermic and control groups. Busulfan was intraperitoneally used for induction of azoospermia, while the right testis was treated with bone marrow-derived stem cells (10(6) BM-SCs), labeled with sterile trypan blue, 35 days after busulfan injection...
January 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/28270212/an-open-label-clinical-trial-to-investigate-the-efficacy-and-safety-of-corifollitropin-alfa-combined-with-hcg-in-adult-men-with-hypogonadotropic-hypogonadism
#20
Eberhard Nieschlag, Pierre-Marc G Bouloux, Barbara J Stegmann, R Ravi Shankar, Yanfen Guan, Anjela Tzontcheva, Christine McCrary Sisk, Hermann M Behre
BACKGROUND: Hypogonadotropic hypogonadism (HH) in men results in insufficient testicular function and deficiencies in testosterone and spermatogenesis. Combinations of human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (recFSH) have been successful in the treatment of HH. Corifollitropin alfa is a long-acting FSH-analog with demonstrated action in women seeking infertility care. The aim of this study was to investigate the efficacy and safety of corifollitropin alfa combined with hCG to increase testicular volume and induce spermatogenesis in men with HH...
March 7, 2017: Reproductive Biology and Endocrinology: RB&E
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