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Azoospermia

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https://www.readbyqxmd.com/read/29228103/fertility-impairment-with-defective-spermatogenesis-and-steroidogenesis-in-male-zebrafish-lacking-androgen-receptor
#1
Haipei Tang, Yu Chen, Le Wang, Yike Yin, Gaofei Li, Yin Guo, Yun Liu, Haoran Lin, Christopher H K Cheng, Xiaochun Liu
The pivotal role of androgen receptor (AR) in regulating male fertility has attracted much research attention in the past two decades. Previous studies have shown that total androgen receptor knockout would lead to incomplete spermatogenesis and a lowered serum testosterone levels in mice, resulting in azoospermia and infertility. However, the precise physiological role of ar in controlling fertility of male fish is still poorly understood. In this study, we have established an ar knockout zebrafish line by transcription activator-like effectors nucleases (TALENs)...
December 6, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29216686/congenital-bilateral-absence-of-the-vas-deferens-as-an-atypical-form-of-cystic-fibrosis-reproductive-implications-and-genetic-counseling
#2
REVIEW
D A S de Souza, F R Faucz, L Pereira-Ferrari, V S Sotomaior, S Raskin
Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring...
December 7, 2017: Andrology
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#3
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29202958/transcriptome-wide-association-study-revealed-two-novel-genes-associated-with-nonobstructive-azoospermia-in-a-chinese-population
#4
Tingting Jiang, Yuzhuo Wang, Meng Zhu, Yifeng Wang, Mingtao Huang, Guangfu Jin, Xuejiang Guo, Jiahao Sha, Juncheng Dai, Zhibin Hu
OBJECTIVE: To investigate the associations between genetically cis-regulated gene expression levels and nonobstructive azoospermia (NOA) susceptibility. DESIGN: Transcriptome-wide association study (TWAS). SETTING: Medical university. INTERVENTIONS: None. MAIN OUTCOME MEASURE(S): The cis-hg2 values for each gene were estimated with GCTA software. The effect sizes of cis-single-nucleotide polymorphisms (SNPs) on gene expression were measured using GEMMA software...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29201526/male-infertility-associated-with-de-novo-pericentric-inversion-of-chromosome-1
#5
Özgür Balasar, Ayşe Gül Zamani, Mehmet Balasar, Hasan Acar
Inversion occurs after two breaks in a chromosome have happened and the segment rotates 180° before reinserting. Inversion carriers have produced abnormal gametes if there is an odd number crossing- over between the inverted and the normal homologous chromosomes causing a duplication or deletion. Reproductive risks such as infertility, abortion, stillbirth and birth of malformed child would be expected in that case. A 54-year- old male patient was consulted to our clinic for primary infertility. The routine chromosome study were applied using peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) banding, and centromer banding (C-banding) stains...
December 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29193985/initial-germ-cell-to-somatic-cell-ratio-impacts-the-efficiency-of-ssc-expansion-in-vitro
#6
Itai Gat, Leila Maghen, Melissa Filice, Shlomit Kenigsberg, Brandon Wyse, Khaled Zohni, Peter Saraz, Andrée Gauthier Fisher, Clifford Librach
Spermatogonial Stem Cell (SSC) expansion in vitro remains a major challenge in efforts to preserve fertility among pubertal cancer survivor boys. The current study focused on innovative approaches to optimize SSC expansion. Six- to eight-week-old CD-1 murine testicular samples were harvested by mechanical and enzymatic digestion. Cell suspensions were incubated for differential plating (DP). After DP, we established two experiments comparing single vs. repetitive DP (S-DP and R-DP, respectively) until passage 2 (P2) completion...
December 1, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29186436/transcriptome-profiling-of-fetal-klinefelter-testis-tissue-reveals-a-possible-involvement-of-long-non-coding-rnas-in-gonocyte-maturation
#7
Sofia B Winge, Marlene D Dalgaard, Jacob M Jensen, Niels Graem, Mikkel H Schierup, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. KS patients display a varying adult phenotype but usually present with azoospermia due to testicular degeneration, which accelerates at puberty. The timing of the germ cell loss and whether it is caused by dysgenetic fetal development of the testes is not known.We investigated 8 fetal KS testes and found a marked reduction in MAGE-A4-positive pre-spermatogonia compared to testes from 15 age-matched controls, indicating a failure of the gonocytes to differentiate into pre-spermatogonia...
November 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29184794/should-we-expand-the-indications-for-varicocele-treatment
#8
REVIEW
Ioannis Vakalopoulos, Spyridon Kampantais, Stefania Lymperi, Nikolaos Grivas, Anastasios Ioannidis, Ioannis Mykoniatis, Vassilios Nikolaou, Georgios Dimitriadis
Current guidelines suggest that treatment of varicocele should be considered in patients with clinically palpable disease and abnormal semen parameters. However, the clinicians are often challenged with the decision whether to treat varicocele in patients with testicular pain or low testosterone levels. Moreover, varicocele is highly associated with DNA fragmentation due to the oxidative stress and it has been demonstrated that surgical repair of varicocele ameliorates oxidative stress markers and consequently the sperm DNA integrity...
October 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/29179259/roles-of-histone-h3-5-in-human-spermatogenesis-and-spermatogenic-disorders
#9
K Shiraishi, A Shindo, A Harada, H Kurumizaka, H Kimura, Y Ohkawa, H Matsuyama
Histone H3.5 (H3.5) is a newly identified histone variant highly expressed in the human testis. We have reported the crystal structure, instability of the H3.5 nucleosome and accumulation around transcription start sites, mainly in primary spermatocytes, but its role in human spermatogenesis remains poorly understood. Testicular biopsy specimens from 30 men (mean age: 35 years) with non-obstructive azoospermia (NOA) who underwent microdissection testicular sperm extraction and 23 men with obstructive azoospermia (OA) were included...
November 27, 2017: Andrology
https://www.readbyqxmd.com/read/29179011/ivf-outcome-in-azoospermic-cancer-survivors
#10
S Dar, R Orvieto, J Levron, J Haas, Itai Gat, G Raviv
OBJECTIVE: To assess clinical outcome among infertile couples treated by in vitro fertilization (IVF) and intra cytoplasmic sperm injection (ICSI) using testicular sperm from azoospermic cancer survivors. STUDY DESIGN: This clinical retrospective study included infertile couples treated in a single tertiary referral center between 1996 and 2013. All male partners were cancer survivors who were diagnosed with azoospermia due to previous gonadotoxic treatments and referred to testicular sperm extraction (TESE)...
November 21, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29172414/contraception-update-sterilization
#11
Karen Antell, Prium Deshmukh, Elizabeth J Brown
Female sterilization procedures include postpartum partial salpingectomy via cesarean or minilaparotomy incision, interval laparoscopic procedures, or hysteroscopic placement of microinserts. Rates of failure and serious complications are low and comparable among the various methods. A hysteroscopic procedure requires a 3-month confirmatory hysterosalpingogram before it is considered effective for contraception. Hysteroscopic sterilization has been shown to be associated with a higher reoperation rate than laparoscopic procedures...
November 2017: FP Essentials
https://www.readbyqxmd.com/read/29169844/fertility-preservation-for-men-with-testicular-cancer-is-sperm-cryopreservation-cost-effective-in-the-era-of-assisted-reproductive-technology
#12
Kirven Gilbert, Ajay K Nangia, James M Dupree, James F Smith, Akanksha Mehta
INTRODUCTION: Many patients do not cryopreserve sperm before undergoing cancer treatment because of high perceived costs of cryopreservation. We sought to investigate the cost-effectiveness of fertility preservation compared to posttherapeutic fertility treatment in testicular cancer patients. MATERIALS AND METHODS: We performed a systematic search of the PubMed database for the following: risk of azoospermia 12 months after surveillance, chemotherapy, retroperitoneal lymph node dissection, and radiation therapy (RT); rates of natural conception, and rates of conception with the use of intrauterine insemination or assisted reproductive technology, with or without microsurgical testicular sperm extraction (microTESE)...
November 20, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/29162350/re-fertility-outcomes-after-extended-searches-for-ejaculated-spermatozoa-in-men-with-virtual-azoospermia
#13
Craig S Niederberger
No abstract text is available yet for this article.
November 18, 2017: European Urology
https://www.readbyqxmd.com/read/29134181/pregnancy-and-live-birth-after-follicle-stimulating-hormone-treatment-for-an-infertile-couple-including-a-male-affected-by-sertoli-cell-only-syndrome
#14
Gianni Paulis, Luca Paulis, Gennaro Romano, Carmen Concas, Marika Di Sarno, Renata Pagano, Antonio Di Filippo, Maria Luisa Di Petrillo
In males with nonobstructive azoospermia, one of the main histopathologic patterns of the testis is Sertoli cell-only syndrome (SCOS), in which no germ cells are present and only Sertoli cells are contained in the seminiferous tubules. There is not any formal treatment for this pathological condition. However, several studies reported the possibility to perform testicular sperm extraction in patients with SCOS, although, according to some authors, sperm retrieval is possible only in the presence of focal spermatogenesis...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/29123028/the-cell-adhesion-molecule-bt-igsf-is-essential-for-a-functional-blood-testis-barrier-and-male-fertility-in-mice
#15
Laura Pelz, Bettina Purfürst, Fritz G Rathjen
The Ig-like cell adhesion molecule (IgCAM) brain- and testis-specific immunoglobulin superfamily (BT-IgSF) protein plays a major role in male fertility in mice. However, the molecular mechanism by which BT-IgSF supports fertility is unclear. Here, we found that it is localized in Sertoli cells at the blood-testis barrier (BTB) and at the apical ectoplasmic specialization. Absence of BT-IgSF in Sertoli cells in both global and conditional mouse mutants (i.e. AMHCre and Rosa26CreERT2 lines) resulted in male infertility, atrophic testes with vacuolation, azoospermia, and spermatogenesis arrest...
November 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29105403/association-between-jmjd1a-expression-and-sperm-retrieval-in-non-obstructive-azoospermic-patients
#16
Zahra Eelaminejad, Raha Favaedi, Tahereh Modarresi, Marjan Sabbaghian, Mohammad Ali Sadighi Gilani, Maryam Shahhoseini
Identification of molecular markers which can predict the outcome of sperm retrieval non-invasively in patients with non-obstructive azoospermia (NOA) are valuable in clinical andrology. Jumonji domain-containing 1a (JMJD1A) is a significant epigenetic regulator during spermatogenesis, which plays an important role in the differentiation of post-meiotic germ cells into mature spermatozoa. We therefore aimed to examine the potential association between JMJD1A expression and the outcome of sperm retrieval in patients with NOA...
January 2018: Cell Journal
https://www.readbyqxmd.com/read/29099633/aging-deteriorates-quality-of-sperm-produced-by-male-mice-with-partial-yq-deletion
#17
Katarzyna Kotarska, Andrzej Doniec, Magdalena Bednarska, Zbigniew Polański, Józefa Styrna
The aim of the study was to assess the cumulative effects of aging and Y-chromosome long arm deletion on sperm quality parameters. Motility, mitochondrial activity, and head morphology were evaluated for sperm of 3- and 12-month-old males from B10.BR-Y(del) and B10.BR congenic mouse strains. The study revealed that quality and fertilizing potential of sperm produced by younger and older B10.BR males persist on similar levels, but worsen significantly with age of B10.BR-Y(del) males. The findings imply that partial Yq deletions might be more harmful for spermiogenesis in advancing age and may be applicable to other species including humans...
November 3, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29096273/effects-of-chemical-castration-using-20-cacl2-with-0-5-dmso-in-tomcats-evaluation-of-inflammatory-reaction-by-infrared-thermography-and-effectiveness-of-treatment
#18
Cristiane Sella Paranzini, Anne Kemmer Sousa, Guilherme Schiess Cardoso, Felipe Montanheiro Perencin, Luiz Guilherme Corsi Trautwein, Ana Paula Frederico Rodrigues Loureiro Bracarense, Maria Isabel Mello Martins
This study used infrared thermography to monitor the immediate inflammatory reaction to an intratesticular injection of 20% (calcium chloride) CaCl2 with 0.5% dimethyl sulfoxide (DMSO) for chemical castration and to provide evidence of the treatment's clinical viability. Six animals received a 0.25 mL intratesticular injection of 20% CaCl2 with 0.5% DMSO in each testis. Thermographic imaging, testicular measurement, penile spine evaluation, electroejaculation, and sperm analysis were performed before the injection...
January 15, 2018: Theriogenology
https://www.readbyqxmd.com/read/29095993/mael-promoter-hypermethylation-is-associated-with-de-repression-of-line-1-in-human-hypospermatogenesis
#19
Yu-Sheng Cheng, Shi-Kae Wee, Tsung-Yen Lin, Yung-Ming Lin
STUDY QUESTION: Does the hypermethylation of the maelstrom spermatogenic transposon silencer (MAEL) promoter and subsequent de-repression of transposable elements represent one of the causes of spermatogenic failure in infertile men? SUMMARY ANSWER: Experimental hypermethylation of a specific region (-131 to +177) of the MAEL promoter leads to decreased expression of MAEL with increased expression of the transposable element LINE-1 (L1) and in infertile men methylation of the MAEL promoter is associated with the severity of spermatogenic failure...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29082371/frequency-of-tnfr1-36-a-g-gene-polymorphism-in-azoospermic-infertile-men-a-case-control-study
#20
Hamid Reza Ashrafzadeh, Tahere Nazari, Masoud Dehghan Tezerjani, Maryam Khademi Bami, Saeed Ghasemi-Esmailabad, Nasrin Ghasemi
BACKGROUND: Tumor necrosis factor-alpha (TNF-α) is a multifunctional cytokine that regulates different cellular activities related to spermatogenesis. Tumor necrosis factor-alpha receptor 1 (TNFR1) mediates TNF-α activity and polymorphism in TNFR1 could lead to gene dysfunction and male infertility. OBJECTIVE: The aim of this study is to determine the association of TNFR1 36 A/G polymorphism with the idiopathic azoospermia in Iranian population. MATERIALS AND METHODS: This case-control study included 108 azoospermic and 119 fertile men...
August 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
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