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Azoospermia

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https://www.readbyqxmd.com/read/28429094/prospective-evaluation-of-scrotal-ultrasound-and-intratesticular-perfusion-by-color-coded-duplex-sonography-ccds-in-tese-patients-with-azoospermia
#1
Bora Altinkilic, Adrian Pilatz, Thorsten Diemer, Julia Wolf, Martin Bergmann, Sarah Schönbrunn, Uwe Ligges, Hans-Christian Schuppe, Wolfgang Weidner
PURPOSE: The objective of this study was to assess whether CCDS might improve the outcome of testicular sperm retrieval in patients with azoospermia. Furthermore, we evaluated potential sonographic alterations of the testis before and after trifocal and Micro-TESE. METHODS: 78 patients were enrolled prospectively: 24 with obstructive azoospermia (OA) and 54 with non-obstructive azoospermia (NOA). 31 of 54 patients in the NOA group had negative surgical sperm retrieval...
April 20, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28428940/factors-influencing-sperm-retrieval-following-testicular-sperm-extraction-in-nonobstructive-azoospermia-patients
#2
Peyman Salehi, Marzieh Derakhshan-Horeh, Zakiye Nadeali, Majid Hosseinzadeh, Erfan Sadeghi, Mohammad Hossein Izadpanahi, Mansour Salehi
OBJECTIVE: Azoospermia owing to testicular disorders is the most severe manifestation of male infertility. The main concern for patients with nonobstructive azoospermia (NOA) is the probability of successful sperm retrieval following testicular sperm extraction (TESE). Therefore, the goal of this study was to determine predictive factors correlated with sperm retrieval. METHODS: We assessed the testicular histopathological patterns, the choice of TESE surgical procedure, hormone levels, and chromosomal abnormalities in patients with NOA (n=170)...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28421491/chapter-7-human-epididymal-and-testicular-sperm-cryopreservation
#3
Pankaj Talwar, Sarabpreet Singh
Since the advent of intracytoplasmic sperm injection (ICSI) in the early 1990s, surgical techniques to recover samples from the epididymis and testis directly have been used to benefit patients suffering from obstructive and nonobstructive azoospermia. Various studies have demonstrated comparable fertilization, ongoing pregnancy, and implantation rates when fresh and frozen-thawed epididymal sperms were used for ICSI [1]. Injection of fresh and frozen testicular sperms into mature oocytes resulted in similar fertilization rates in cases of obstructive azoospermia...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28421111/xrcc5-vntr-xrcc6-61c-g-and-xrcc7-6721g-t-gene-polymorphisms-associated-with-male-infertility-risk-evidences-from-case-control-and-in-silico-studies
#4
Danial Jahantigh, Abasalt Hosseinzadeh Colagar
We evaluate the association between genetic polymorphisms of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T with male infertility susceptibility. A total of 392 men including 178 infertile males (102 idiopathic azoospermia and 76 severe oligozoospermia) and 214 healthy controls were recruited. XRCC6 -61C>G and XRCC7 6721G>T genotyping was performed by PCR-RFLP whereas XRCC5 VNTR was performed by PCR. The 2R allele and 2R allele carriers of XRCC5 VNTR polymorphism significantly decreased risk of male infertility...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28417005/reversibility-of-vasalgel%C3%A2-male-contraceptive-in-a-rabbit-model
#5
Donald Waller, David Bolick, Elaine Lissner, Christopher Premanandan, Gary Gamerman
BACKGROUND: Development of a non-hormonal long-acting reversible contraceptive for men could have a significant impact on reducing unintended pregnancies. Vasalgel™ is a high molecular weight polymer consisting of styrene-alt-maleic acid (SMA) dissolved in dimethyl sulfoxide being developed as a reversible male contraceptive device. It forms a hydrogel when implanted into the vasa deferentia, which prevents the passage of sperm. Previous studies in the rabbit have proven its efficacy, durability and rapid onset...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28410062/role-of-imaging-in-the-evaluation-of-male-infertility
#6
Pardeep K Mittal, Brent Little, Peter A Harri, Frank H Miller, Lauren F Alexander, Bobby Kalb, Juan C Camacho, Viraj Master, Matthew Hartman, Courtney C Moreno
Infertility is defined herein as the inability to achieve pregnancy after frequently engaging in unprotected sexual intercourse for 1 year. Among infertile couples, the cause of infertility involves the male partner in approximately 50% of cases. Male infertility is usually caused by conditions affecting sperm production, sperm function, or both, or blockages that prevent the delivery of sperm. Chronic health problems, injuries, lifestyle choices, anatomic problems, hormonal imbalances, and genetic defects can have a role in male infertility...
April 14, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28409903/primary-secondary-and-compensated-hypogonadism-a-novel-risk-stratification-for-infertile-men
#7
E Ventimiglia, S Ippolito, P Capogrosso, F Pederzoli, W Cazzaniga, L Boeri, I Cavarretta, M Alfano, P Viganò, F Montorsi, A Salonia
Recently, the cohort of men from the European Male Ageing Study has been stratified into different categories distinguishing primary, secondary and compensated hypogonadism. A similar classification has not yet been applied to the infertile population. We performed a cross-sectional study enrolling 786 consecutive Caucasian-European infertile men segregated into eugonadal [normal serum total testosterone (≥3.03 ng/mL) and normal luteinizing hormone (≤9.4 mU/mL)], secondary (low total testosterone, low/normal luteinizing hormone), primary (low total testosterone, elevated luteinizing hormone) and compensated hypogonadism (normal total testosterone; elevated luteinizing hormone)...
May 2017: Andrology
https://www.readbyqxmd.com/read/28405942/first-successful-conception-induced-by-a-male-cystinosis-patient
#8
Koenraad R Veys, Kathleen W D'Hauwers, Angelique J C M van Dongen, Mirian C Janssen, Martine T P Besouw, Ellen Goossens, Lambert P van den Heuvel, Alex A M M Wetzels, Elena N Levtchenko
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.We present the first successful conception ever reported, induced by a 27-year-old male renal transplant infantile nephropathic cystinosis patient through percutaneous epididymal sperm aspiration (PESA) followed by intracytoplasmatic sperm injection (ICSI)...
April 13, 2017: JIMD Reports
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
#9
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...
April 11, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28392474/novel-fsh%C3%AE-mutation-in-a-male-patient-with-isolated-fsh-deficiency-and-infertility
#10
Junjie Zheng, Jangfeng Mao, Mingxuan Cui, Zhaoxiang Liu, Xi Wang, Shuyu Xiong, Min Nie, Xueyan Wu
Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHβ is an extremely rare autosomal recessive disease that has only been reported in ten patients to date. Symptoms of the disease include amenorrhoea and hypogonadism in women and azoospermia and normal testosterone levels in men. This study describes a Chinese male patient who presented with cryptorchidism and infertility. His serum hormonal profile revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis identified a novel homozygous mutation in the FSHβ gene (c...
April 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28392002/does-cryopreservation-of-sperm-affect-fertilization-in-nonobstructive-azoospermia-or-cryptozoospermia
#11
Natali Schachter-Safrai, Gilad Karavani, Eliahu Levitas, Michael Friger, Atif Zeadna, Eitan Lunenfeld, Iris Har-Vardi
OBJECTIVE: To compare intracytoplasmic sperm injection (ICSI) outcomes with the use of fresh or frozen-thawed ejaculated or testicular sperm in patients with cryptozoospermia or nonobstructive azoospermia. DESIGN: Retrospective cohort study. SETTING: Tertiary medical center IVF unit. PATIENT(S): A total of 274 patients evaluated from 1999 to 2011. INTERVENTION(S): A total of 103 patients underwent testicular sperm extraction (TESE) because of nonobstructive azoospermia, and 171 patients were diagnosed with cryptozoospermia...
April 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28388287/in-silico-analysis-of-non-synonymous-single-nucleotide-polymorphisms-in-human-dazl-gene-associated-with-male-infertility
#12
Mili Nailwal, Jenabhai B Chauhan
In living systems the most frequent type of genetic mutation is the single nucleotide polymorphism (SNP). Non-synonymous SNPs (nsSNPs) or missense mutations arise in coding regions of a particular gene. nsSNPs result in a single amino acid substitution which may have effects on the structure and/or function of proteins. Spermatogenesis is a complex process where haploid spermatozoa are formed. The deleted in azoospermia like (DAZL) gene has a relationship with male infertility and dysfunction of DAZL may decrease the sperm count which leads to oligozoospermia or azoospermia...
April 7, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28384194/loss-of-slc9a3-decreases-cftr-protein-and-causes-obstructed-azoospermia-in-mice
#13
Ya-Yun Wang, Ying-Hung Lin, Yi-No Wu, Yen-Lin Chen, Yung-Chih Lin, Chiao-Yin Cheng, Han-Sun Chiang
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF) and are associated with congenital bilateral absence of the vas deferens (CBAVD), which is the major cause of infertility in male patients with CF. However, most Taiwanese patients with CBAVD do not carry major CFTR mutations. Some patients have a single copy deletion of the solute carrier family 9 isoform 3 (SLC9A3) gene. SLC9A3 is a Na+/H+ exchanger, and depleted Slc9a3 in male mice causes infertility due to the abnormal dilated lumen of the rete testis and efferent ductules...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28371167/long-term-sexual-health-outcomes-in-men-with-classic-bladder-exstrophy
#14
Timothy S Baumgartner, Kathy M Lue, Pokket Sirisreetreerux, Sarita Metzger, Ross G Everett, Sunil S Reddy, Ezekiel Young, Uzoma A Anele, Cameron E Alexander, Nilay M Gandhi, Heather N Di Carlo, John P Gearhart
OBJECTIVES: To identify the long-term sexual health outcomes and relationships in men born with classic bladder exstrophy (CBE). MATERIALS AND METHODS: A prospectively-maintained institutional database comprised of 1248 patients with exstrophy-epispadias was utilized. Male patients 18 years or older with CBE were included. A 42-question survey was designed utilizing a combination of demographic information and previously validated questionnaires. RESULTS: A total of 215 men inclusion criteria, of which 113 (53%) completed the questionnaire...
March 31, 2017: BJU International
https://www.readbyqxmd.com/read/28370107/association-of-the-c-9c-t-and-c-368a-g-transitions-in-h2bfwt-gene-with-male-infertility-in-an-iranian-population
#15
A Rafatmanesh, H Nikzad, A Ebrahimi, M Karimian, T Zamani
The H2BFWT (H2B family, member W, testis specific) gene is a testis-specific histone which is involved in the spermatogenesis process. This study aimed to investigate the association of H2BFWT gene c.-9C>T and c.368A>G polymorphisms with male infertility in an Iranian population. The 232 independent individuals, including 109 infertile men and 123 healthy controls, were recruited from IVF centre (Kashan, Iran). The allele types of c.-9C>T and c.368A>G polymorphisms were detected by using PCR-RFLP method...
March 30, 2017: Andrologia
https://www.readbyqxmd.com/read/28367994/polymorphism-in-the-alternative-donor-site-of-the-cryptic-exon-of-lhcgr-functional-consequences-and-associations-with-testosterone-level
#16
Wei Liu, Bing Han, Wenjiao Zhu, Tong Cheng, Mengxia Fan, Jiajun Wu, Ying Yang, Hui Zhu, Jiqiang Si, Qifeng Lyu, Weiran Chai, Shuangxia Zhao, Huaidong Song, Yanping Kuang, Jie Qiao
Selective splicing is a feature of luteinizing hormone receptor (LHCGR). A cryptic exon (LHCGR-exon 6A) was found to be derived from alternative splicing in intron 6 of the LHCGR gene, which including two transcripts LHCGR-exon 6A-long and LHCGR-exon 6A-short. We addressed the functional consequences of SNP rs68073206, located at the +5 position of an alternative 5' splice donor site, and observed its association with male infertility in the subjects with azoospermia, oligoasthenozoospermia and normozoospermia...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28367472/hiwi2-rs508485-polymorphism-is-associated-with-non-obstructive-azoospermia-in-iranian-patients
#17
Zeeba Kamaliyan, Sara Pouriamanesh, Mona Amin-Beidokhti, Amir Rezagholizadeh, Reza Mirfakhraie
BACKGROUND: The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. HIWI genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in HIWI genes contribute to spermatogenesis defects and can be considered as risk factors for male infertility. The aim of the present study was to investigate the association between the HIWI2 gene rs508485 polymorphism and non-obstructive azoospermia...
April 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28367414/the-prevalence-of-y-chromosome-microdeletions-in-iranian-infertile-men-with-azoospermia-and-severe-oligospermia
#18
Fahimeh Asadi, Mohammad Ali Sadighi Gilani, Azadeh Ghaheri, Javad Roodgar Saffari, Mohammadreza Zamanian
OBJECTIVE: Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. The aim of the present study was to reveal the patterns of Y chromosome microdeletions in Iranian infertile men referred to Royan Institute with azoospermia/ severe oligospermia. MATERIALS AND METHODS: Through a cross-sectional study, 1885 infertile men referred to Royan Institute with azoospermia/severe oligospermia were examined for Y chromosome microdeletions from March 2012 to March 2014...
April 2017: Cell Journal
https://www.readbyqxmd.com/read/28364784/tty2-genes-deletions-as-genetic-risk-factor-of-male-infertility
#19
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/28364521/rna-immunoprecipitation-identifies-novel-targets-of-dazl-in-human-foetal-ovary
#20
Roseanne Rosario, Richard W P Smith, Ian R Adams, Richard A Anderson
Study question: Can novel meiotic RNA targets of DAZL (deleted in azoospermia-like) be identified in the human foetal ovary? Summary answer: SYCP1 (synaptonemal complex protein-1), TEX11 (testis expressed 11) and SMC1B (structural maintenance of chromosomes 1B) are novel DAZL targets in the human foetal ovary, thus DAZL may have previously unrecognised roles in the translational regulation of RNAs involved in chromosome cohesion and DNA recombination in the oocyte from the time of initiation of meiosis...
March 1, 2017: Molecular Human Reproduction
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