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Severe Oligozoospermia

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https://www.readbyqxmd.com/read/30053768/identification-of-two-novel-mutations-in-kdm3a-regulatory-gene-in-iranian-infertile-males
#1
Zohreh Hojati, Elaheh Soleimanpour, Seyed-Morteza Javadirad, Mohammad Hossein Nasr-Esfahani
Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile men (oligozoospermia and azoospermia) and 150 normal healthy fathers were studied...
July 28, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29973189/testicular-histopathology-semen-analysis-and-fsh-predictive-value-of-sperm-retrieval-supportive-counseling-in-case-of-reoperation-after-testicular-sperm-extraction-tese
#2
Lucio Gnessi, Filomena Scarselli, Maria Giulia Minasi, Stefania Mariani, Carla Lubrano, Sabrina Basciani, Pier Francesco Greco, Mikiko Watanabe, Giorgio Franco, Alessio Farcomeni, Ermanno Greco
BACKGROUND: To provide indicators for the likelihood of sperm retrieval in patients undergoing testicular sperm extraction is a major issue in the management of male infertility by TESE. The aim of our study was to determine the impact of different parameters, including testicular histopathology, on sperm retrieval in case of reoperation in patients undergoing testicular sperm extraction. METHODS: We retrospectively analyzed 486 patients who underwent sperm extraction for intracytoplasmic sperm injection and testicular biopsy...
July 4, 2018: BMC Urology
https://www.readbyqxmd.com/read/29942932/nfkb1-rs28362491-and-pre-mirna-146a-rs2910164-snps-on-e-cadherin-expression-in-case-of-idiopathic-oligospermia-a-case-control-study
#3
Matem Tunçdemir, Güven Yenmiş, Kübra Tombultürk, Hülya Arkan, Tuğba Soydaş, Rasit Burak Tek, Özlem Altıntaş, Hamdi Özkara, Gönül Kanıgür-Sultuybek
Background: A notable proportion of idiopathic male infertility cases is accompanied by oligozoospermia; and yet, the molecular mechanisms of fertilization problem underlying this defect are still unclear. Epithelial cadherin has been involved in several calcium-dependent cell-to-cell adhesion events; however, its participation in gamete interaction has also not been fully investigated. Objective: The aim was to investigate the changes in the expression of E-cadherin, based on the frequency of Single nucleotide polymorphisms in Nuclear Factor Kappa-B 1 and pre-mir-146a in oligospermic men...
April 2018: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/29798938/sperm-origins-and-concentration-do-not-impact-the-clinical-outcomes-in-intracytoplasmic-sperm-injection-cycles
#4
Cen Yang, Ze-Hong Zhou, Dan-Ni Zheng, Xiao-Fei Xu, Jin Huang, Ying Lian, Jie Qiao
In the present study, we evaluated the impact of sperm origins and concentration on the clinical outcomes of intracytoplasmic sperm injection (ICSI) cycles. A total of 1201 ICSI cycles were retrospectively analyzed for male azoospermia or oligozoospermia between January 2015 and December 2015 in the Peking University Third Hospital. Patients were divided into three groups (Group 1 vs Group 2/3; surgically extracted sperm vs ejaculated sperms): Group 1 included 343 ICSI cycles and Group 2 analyzed 388 cycles on semen with sperm concentration <5 × 106 ml-1 (severe oligozoospermia group)...
May 25, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29713544/chromosomal-abnormalities-in-infertile-men-with-azoospermia-and-severe-oligozoospermia-in-qatar-and-their-association-with-sperm-retrieval-intracytoplasmic-sperm-injection-outcomes
#5
Mohamed M Arafa, Ahmad Majzoub, Sami S AlSaid, Walid ElAnsari, Abdulla Al Ansari, Yara Elbardisi, Haitham T Elbardisi
Objective: To study the types and incidence of chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar, and to compare the hormonal changes, testicular sperm retrieval rate, and intracytoplasmic sperm injection (ICSI) outcome between patients with chromosomal abnormalities and patients with idiopathic infertility. Patients and methods: This study involved the retrospective chart review of 625 infertile male patients attending an academic tertiary medical centre in Qatar...
March 2018: Arab Journal of Urology
https://www.readbyqxmd.com/read/29707937/detection-of-y-chromosome-microdeletions-and-hormonal-profile-analysis-of-infertile-men-undergoing-assisted-reproductive-technologies
#6
Ardeshir Bahmanimehr, Shahryar Zeighami, Bahia Namavar Jahromi, Zahra Anvar, Mohammad Ebrahim Parsanezhad, Maryam Davari, Somayeh Montazeri
Background: Y chromosome deletions (YCDs) in azoospermia factor (AZF) region are associated with abnormal spermatogenesis and may lead to azoospermia or severe oligozoospermia. Assisted reproductive technologies (ART) by intracytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) are commonly required for infertility management of patients carrying YCDs. The aim of this study was to estimate the frequency of YCDs, to find the most frequent variant in infertile men candidate for ART and to compare YCD distribution with a control fertile group...
July 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29684482/two-cases-of-complex-balanced-autosomal-translocations-associated-with-severe-oligozoospermia
#7
Yan-Wei Sha, Li-Bin Mei, Zhi-Yong Ji, Lu Ding, Yunsheng Ge, Qiong Wu, Hui Kong, Zhi-Ying Su, Ping Li
Complex balanced autosomal translocation is rare and can lead to impaired spermatogenesis in males; however, its effects on oligozoospermia have rarely been reported. We report here two cases of rare complex balanced translocation in men with infertility. The karyotype of the first case was 46,XY,der(1)t(1;12)(p22;p11.2)ins(9;1)(p24;q25q23),der(9)ins(9;1),der(12)t(1;12)·ish der(1)t(1;12)(RP11-636B1+;RP11-659D23+)ins(9;1)(RP11-118P13+),der(9)ins(9;1),der(12)t(1;12). And the patient showed severe oligozoospermia with adult schizophrenia without other abnormalities...
July 15, 2018: Gene
https://www.readbyqxmd.com/read/29540081/testing-for-genetic-contributions-to-infertility-potential-clinical-impact
#8
Csilla Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Male infertility affects about 7% of the general male population, and it is a multifactorial, polygenic pathological condition. Known genetic factors, accounting for about 20-25% of male factor infertility, are present in each etiological category: i) hypothalamic-pituitary axis dysfunction; ii) quantitative and qualitative alterations of spermatogenesis; iii) ductal obstruction/dysfunction. Areas covered: All routinely available genetic tests are described. Indication for testing for chromosomal anomalies and Y chromosome microdeletions is based on sperm count (severe oligozoospermia/azoospermia)...
April 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29538680/spontaneous-fertility-in-a-male-patient-with-testotoxicosis-despite-suppression-of-fsh-levels
#9
M Cunha-Silva, V N Brito, D B Macedo, D S Bessa, C O Ramos, L G Lima, P S Barroso, I J P Arnhold, D L Segaloff, B B Mendonca, A C Latronico
Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected males usually have normal gonadotropin profiles and fertility in their adult life. Here, we described the long-term follow-up of a 24-year-old young man with severe testotoxicosis due to a de novo activating mutation in the third transmembrane helix of the LHCGR (p.Leu457Arg). This patient was treated with different medications, including medroxyprogesterone acetate, ketoconazole, cyproterone acetate and aromatase inhibitor from age 2...
May 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29282757/level-of-neutral-alpha-1-4-glucosidase-in-seminal-plasma-of-chinese-men
#10
Z Qiu, Q Chu, W Zhang, C Luo, S Quan
Neutral alpha-1,4-glucosidase (NAG) is a crucial biomarker for the function of epididymis and is reported to be associated with semen quality. However, the correlation between NAG and Chinese semen quality has never been reported. This study aimed to investigate the level of NAG in the seminal plasma of Chinese men. A total of 394 cases of seminal plasma samples from normal, subfertile and infertile men were enrolled in this study. Male subfertility was caused by teratozoospermia, asthenospermia, severe oligozoospermia, asthenoteratozoospermia, oligoasthenospermia and oligoasthenoteratozoospermia...
April 2018: Andrologia
https://www.readbyqxmd.com/read/29082206/the-society-for-translational-medicine-clinical-practice-guidelines-for-sperm-dna-fragmentation-testing-in-male-infertility
#11
REVIEW
Ashok Agarwal, Chak-Lam Cho, Ahmad Majzoub, Sandro C Esteves
Sperm DNA fragmentation (SDF) testing has been emerging as a valuable tool for male fertility evaluation. While the essential role of sperm DNA integrity in human reproduction was extensively studied, the clinical indication of SDF testing is less clear. This clinical practice guideline provides recommendations of clinical utility of the test supported by evidence. It is intended to serve as a reference for fertility specialists in identifying the circumstances in which SDF testing should be of greatest clinical value...
September 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/29063501/the-normality-of-sperm-in-an-infertile-man-with-ring-chromosome-15-a-case-report
#12
Kazuyo Nishikawa, Fumiaki Itoi, Miki Nagahara, Mami Jose, Ayumi Matsunaga, Jun Ueda, Takashi Iwamoto
PURPOSE: The purpose of this report is to analyze the chromosome status and fertilization capability of sperm obtained from an infertile male patient with ring chromosome 15. METHODS: This was a case report at a private in vitro fertilization clinic. A man diagnosed with severe oligozoospermia carrying ring chromosome 15. To evaluate the chromosome status and fertilization capability, sperm from a patient carrying ring chromosome 15 were injected into enucleated mouse oocytes...
February 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29062795/y-chromosome-microdeletions-in-infertile-men-with-non-obstructive-azoospermia-and-severe-oligozoospermia
#13
Shin Young Kim, Hyun Jin Kim, Bom Yi Lee, So Yeon Park, Hyo Serk Lee, Ju Tae Seo
BACKGROUND: The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions. METHODS: A total of 1,226 infertile men were screened for Y chromosome microdeletions using multiplex PCR assay. Karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Serum reproductive hormone levels were measured...
July 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/29017965/a-novel-mutation-in-haus7-results-in-severe-oligozoospermia-in-two-brothers
#14
Lin Li, Yan-Wei Sha, Zhi-Ying Su, Li-Bin Mei, Zhi-Yong Ji, Qing Zhang, Shao-Bin Lin, Xu Wang, Ping-Ping Qiu, Ping Li, Chenghong Yin
Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.G386T:p.G129V), an X-linked gene. HAUS7 has been reported to play a role in the meiotic maturation and chromosome alignment of germ cells. The two patients inherited this variant from their mother, and this variant was considered to be a highly pathogenic mutation by in silico analysis...
January 10, 2018: Gene
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#15
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes. After extensive validation, we screened 1,112 idiopathic infertile men with non-obstructive azoospermia or severe oligozoospermia...
November 2017: Human Mutation
https://www.readbyqxmd.com/read/28730893/multicenter-study-of-genetic-abnormalities-associated-with-severe-oligospermia-and-non-obstructive-azoospermia
#16
Chong Xie, Xiangfeng Chen, Yulin Liu, Zhengmu Wu, Ping Ping
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015...
January 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/28637085/successful-delivery-derived-from-cryopreserved-rare-human-spermatozoa-with-novel-cryopiece
#17
J Sun, W Chen, L Zhou, J Hu, Z Li, Z Zhang, Y Wu
Herein, we report the clinical outcomes following intracytoplasmic sperm injection (ICSI) with cryopiece cryopreserved rare human spermatozoa from severe male factor infertility patients. We established a novel cryopiece system on the basis of previous studies. In this study, 126 spermatozoa from four patients with non-obstructiveazoospermia (NOA) or severe oligozoospermia were stored in cryopiece and then thawed on the day of the oocyte retrieval, 88 (83%) spermatozoa were recovered with a 47.5% (38 of 80) motile rate...
July 2017: Andrology
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#18
REVIEW
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. 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. Consistent 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...
November 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28553232/integrated-analysis-of-dna-methylation-and-mrna-expression-profiles-to-identify-key-genes-in-severe-oligozoospermia
#19
Zhiming Li, Xuan Zhuang, Jinxiong Zeng, Chi-Meng Tzeng
Severe oligozoospermia (SO) is a complex disorder, whose etiology is the combined effect of genetic factors and epigenetic conditions. In this study, we examined DNA methylation and mRNA expression status in a set of testicular tissues of SO patients (n = 3), and compared methylated data with those derived from obstructive azoospermia (OA) patients (n = 3) with normal spermatogenesis phenotype. We identified 1,960 differentially methylated CpG sites showing significant alterations in SO vs. OA using the Illumina Infinium HumanMethylation450 bead array...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28456834/spermatogenic-failure-and-the-y-chromosome
#20
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
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