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https://www.readbyqxmd.com/read/28206990/a-familial-study-of-azoospermic-men-identifies-three-novel-causative-mutations-in-three-new-human-azoospermia-genes
#1
Moran Gershoni, Ron Hauser, Leah Yogev, Ofer Lehavi, Foad Azem, Haim Yavetz, Shmuel Pietrokovski, Sandra E Kleiman
PURPOSE: Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest. METHODS: Affected and unaffected siblings from three families were subjected to whole-exome or whole-genome sequencing, followed by comprehensive bioinformatics analyses to identify mutations suspected to cause azoospermia...
February 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28125052/serum-metabolomic-profiling-identifies-characterization-of-non-obstructive-azoospermic-men
#2
Zhe Zhang, Yingwei Zhang, Changjie Liu, Mingming Zhao, Yuzhuo Yang, Han Wu, Hongliang Zhang, Haocheng Lin, Lemin Zheng, Hui Jiang
Male infertility is considered a common health problem, and non-obstructive azoospermia with unclear pathogenesis is one of the most challenging tasks for clinicians. The objective of this study was to investigate the differential serum metabolic pattern in non-obstructive azoospermic men and to determine potential biomarkers related to spermatogenic dysfunction. Serum samples from patients with non-obstructive azoospermia (n = 22) and healthy controls (n = 31) were examined using high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS)...
January 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28120211/molecular-effect-of-human-umbilical-cord-blood-cd34-positive-and-cd34-negative-stem-cells-and-their-conjugate-in-azoospermic-mice
#3
Somia H Abd Allah, Heba F Pasha, Abeer A Abdelrahman, Nehad F Mazen
Currently, azoospermia is one of the most common diseases of male infertility. Stem cell research is the new hope for novel therapy with a higher degree of safety and lower cost. This study aimed to investigate the effect of umbilical cord blood-derived stem cells (" and mesenchymal "UCB-MSCs") and mono-cell layer implanted into the induced azoospermic mice testis. Stem cells were isolated from umbilical cord blood and CD34+ve cells were separated from negative one by Mini MACs column. At 5th week after single injection of busulfan, stained mesenchymal (CD34-ve), hematopoietic stem cells (CD34+ve) and their conjugate (mono-cell layer) were injected locally into testis...
January 24, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28073201/azoospermic-patient-s-treatment-an-experience-of-a-pma-hospital-unit-and-role-of-ultrasonography
#4
Paolo Panella, Pietro Pepe, Placido Borzì, Maria Elena Vento, Michele Pennisi, Paolo Scollo
INTRODUCTION: Azoospermia causes about 10% of male infertility and the best therapeutic option is the retrieval of sperm from testis or epididymis. MATERIAL AND METHODS: From Juanary 2008 to June 2016, 92 men (median 36 years; range: 25-54 years) were submitted in 47 cases to TESE (testicular sperm extraction) and in 45 cases to PESA (percutaneous epididymal sperm aspiration) for secretory and obstructive azoospermia, respectively; moreover, all the patients previously underwent color Doppler ultrasound of the testis and transrectal ultrasound of the prostate...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28061524/prevalence-of-small-testicular-hyperechogenic-foci-in-subgroups-of-382-non-vasectomized-azoospermic-men-a-retrospective-cohort-study
#5
J Fedder
Testicular hyperechogenic foci (THF) are associated with Klinefelter's syndrome, cryptorchidism, infertility, and testicular germ cell neoplasia. The aims of the study were to evaluate THF in relation to etiology of azoospermia and to Sertoli cell dysfunction. The structures inside the scrotum of consecutive non-vasectomized, azoospermic were examined by ultrasonography, and hormone (FSH, LH, testosterone, and prolactin), and genetic analyses (karyotype, Y microdeletions, and CFTR mutations) were performed...
January 6, 2017: Andrology
https://www.readbyqxmd.com/read/28060836/diagnosis-of-partial-retrograde-ejaculation-in-non-azoospermic-infertile-men-with-low-semen-volume
#6
Roger Mieusset, Marie Walschaerts, François Isus, Thierry Almont, Myriam Daudin, Safouane M Hamdi
In non-azoospermic patients with low semen volume (LSV), looking for partial retrograde ejaculation (PRE) by searching sperm in the postejaculatory urine (PEU) is required. The use of a retro-ejaculatory index (R-ratio) was suggested to define PRE, but none of the studies indicated a specific threshold above which PRE must be considered. Our objective was to propose a threshold value for the R-ratio as indicative of PRE in patients with LSV selected to be devoid of any known causes or risk factors for retrograde ejaculation or LSV...
2017: PloS One
https://www.readbyqxmd.com/read/28057874/pregnancy-and-live-birth-rates-after-microsurgical-vasoepididymostomy-for-azoospermic-patients-with-epididymal-obstruction
#7
Jing Peng, Zhichao Zhang, Yiming Yuan, Wanshou Cui, Weidong Song
STUDY QUESTION: Can microsurgical vasoepididymostomy (MVE) be an effective treatment for azoospermic men with epididymal obstruction? SUMMARY ANSWER: MVE is an effective treatment for epididymal obstruction, with overall patency and live birth rates of 76.3% and 34.8%, respectively. WHAT IS KNOWN ALREADY: We showed that MVE was an effective treatment for non-vasectomized patients with epididymal obstruction and prior failed sperm retrieval for ICSI...
February 2017: Human Reproduction
https://www.readbyqxmd.com/read/28045072/induced-pluripotent-stem-cell-generation-from-a-man-carrying-a-complex-chromosomal-rearrangement-as-a-genetic-model-for-infertility-studies
#8
Aurélie Mouka, Vincent Izard, Gérard Tachdjian, Sophie Brisset, Frank Yates, Anne Mayeur, Loïc Drévillon, Rafika Jarray, Philippe Leboulch, Leila Maouche-Chrétien, Lucie Tosca
Despite progress in human reproductive biology, the cause of male infertility often remains unknown, due to the lack of appropriate and convenient in vitro models of meiosis. Induced pluripotent stem cells (iPSCs) derived from the cells of infertile patients could provide a gold standard model for generating primordial germ cells and studying their development and the process of spermatogenesis. We report the characterization of a complex chromosomal rearrangement (CCR) in an azoospermic patient, and the successful generation of specific-iPSCs from PBMC-derived erythroblasts...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28000956/blood-and-semen-paraoxonase-arylesterase-activities-in-normozoospermic-and-azoospermic-men
#9
M Gulum, K Gumus, E Yeni, E Dogantekin, H Ciftci, Y Akin, M Savas, A Altunkol
Paraoxonase and arylesterase enzymes are corner stones of antioxidant defence. We aimed to compare azoospermic infertile men and normozoospermic individuals with respect to total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), paraoxonase and arylesterase levels in the blood and seminal plasma. Two-hundred consecutive infertility patients and voluntarily participated were included. In the normozoospermic group, TAS, PON, arylesterase values were statistically significantly higher when compared with those in the azoospermic group, while lower TOS and OSI levels were observed in the blood and seminal plasma of azoospermic group...
December 21, 2016: Andrologia
https://www.readbyqxmd.com/read/28000927/does-detection-of-ddx4-mrna-in-cell-free-seminal-plasma-represents-a-reliable-noninvasive-germ-cell-marker-in-patients-with-nonobstructive-azoospermia
#10
W Abdallah, D Hashad, R Abdelmaksoud, M M Hashad
This study aimed to investigate the potential application of DDX4 gene expression in cell-free seminal mRNA as a noninvasive biomarker for the identification of the presence of germ cells in men with nonobstructive azoospermia and to correlate this factor with testicular biopsy. Male reproductive organ-specific genes were chosen: DDX4, which is a germ cell-specific gene and transglutaminase 4, which is a prostate-specific gene that was used as a control gene. Thirty-nine azoospermic males and twenty-eight normospermic fertile males (serving as a control group) participated in the study...
December 21, 2016: Andrologia
https://www.readbyqxmd.com/read/27981258/multiplex-pcr-based-screening-for-micro-partial-deletions-in-the-azf-region-of-y-chromosome-in-severe-oligozoospermic-and-azoospermic-infertile-men-in-iran
#11
M Burak Kaplan, Hasan Acar
No abstract text is available yet for this article.
November 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27927843/risk-of-childhood-mortality-in-family-members-of-men-with-poor-semen-quality
#12
Heidi A Hanson, Erik N Mayer, Ross E Anderson, Kenneth I Aston, Douglas T Carrell, Justin Berger, William T Lowrance, Ken R Smith, James M Hotaling
STUDY QUESTION: What is the familial childhood mortality in first-degree (FDR) and second-degree relatives (SDR) of patients undergoing semen analysis (SA)? SUMMARY ANSWER: The relationship between infertility and congenital malformations (CM) in offspring is complex, with an increased risk of death due to CM in FDR, but not SDR, of men with lower semen parameters. WHAT IS KNOWN ALREADY: Semen quality is an established predictor of men's somatic health...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27882599/46-xx-males-a-case-series-based-on-clinical-and-genetics-evaluation
#13
F Mohammadpour Lashkari, M Totonchi, M R Zamanian, Z Mansouri, M A Sadighi Gilani, M Sabbaghian, A Mohseni Meybodi
46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profile, there are SRY-positive and SRY-negative forms. The purpose of our study was to report first case series of Iranian patients and describe the different clinical appearances based on their genetic component. From the 8,114 azoospermic and severe oligozoospermic patients referred to Royan institute, we diagnosed 57 cases as sex reversal patients...
November 24, 2016: Andrologia
https://www.readbyqxmd.com/read/27855957/age-and-duration-of-testosterone-therapy-predict-time-to-return-of-sperm-count-after-human-chorionic-gonadotropin-therapy
#14
Taylor P Kohn, Matthew R Louis, Stephen M Pickett, Mark C Lindgren, Jaden R Kohn, Alexander W Pastuszak, Larry I Lipshultz
OBJECTIVE: To determine factors that influence sperm recovery after T-associated infertility. DESIGN: Clinical retrospective study. SETTING: Academic male-infertility urology clinic. PATIENT(S): Sixty-six men who presented with infertility after T use. INTERVENTION(S): T cessation and combination high-dose hCG and selective estrogen modulator (SERM) therapy. MAIN OUTCOME MEASURE(S): Whether patients successfully achieved or failed to achieve a total motile count (TMC) of greater than 5 million sperm within 12 months of T cessation and initiation of therapy...
February 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27816927/use-of-testicular-sperm-for-icsi-in-oligozoospermic-couples-how-far-should-we-go
#15
REVIEW
Armand Zini, Phil V Bach, Ahmad H Al-Malki, Peter N Schlegel
In 1992 and subsequently, several reports indicated that ICSI was a successful technique to achieve clinical pregnancy and live birth using spermatozoa with severely impaired characteristics. The initial optimism over the ability of ICSI to overcome significant sperm abnormalities was later tempered by the findings of more recent publications suggesting that some sperm deficits may not be as effectively treated with ICSI. In search for effective treatment for couples with severe male factor, a number of small retrospective and prospective studies have reported high pregnancy and live birth rates using testicular sperm for men with necrozoospermia, cryptozoospermia and oligozoospermia with or without elevated sperm DNA damage...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27803587/prevalence-of-chromosomal-abnormalities-and-y-chromosome-microdeletion-among-men-with-severe-semen-abnormalities-and-its-correlation-with-successful-sperm-retrieval
#16
Mariano Mascarenhas, Sumi Thomas, Mohan S Kamath, Ramya Ramalingam, Ann Marie Kongari, S Yuvarani, Vivi M Srivastava, Korula George
AIM: To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN: A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS: In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml) attending the infertility center underwent genetic screening...
July 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/27785898/outcome-of-intracytoplasmic-sperm-injection-using-fresh-and-cryopreserved-thawed-test%C3%A4-cular-spermatozoa-in-83-azoospermic-men-with-klinefelter-syndrome
#17
Kubilay Vicdan, Cem Akarsu, Eran Sözen, Burcu Buluç, Arzu Vicdan, Yıldırım Yılmaz, Kutay Biberoğlu
AIM: To report the outcome of intracytoplasmic sperm injection (ICSI) cycles using fresh or cryopreserved-thawed testicular spermatozoa of men with Klinefelter syndrome (KS). METHODS: Medical records of 83 azoospermic men with KS who underwent testicular sperm extraction (TESE) were reviewed. The clinical parameters for predicting sperm retrieval and fertilization, implantation, pregnancy and live birth rates of ICSI cycles in these patients were evaluated. RESULTS: A total of 88 TESE procedures were performed with sperm retrieval rates of 39...
November 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27785408/association-of-the-mthfr-c677t-rs1801133-polymorphism-with-idiopathic-male-infertility-in-a-local-pakistani-population
#18
M Irfan, M Ismail, M Azhar Beg, A Shabbir, A Rashid Kayani, G Kaukab Raja
The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27779755/single-gene-defects-leading-to-sperm-quantitative-anomalies
#19
REVIEW
M J Mitchell, C Metzler-Guillemain, A Toure, C Coutton, C Arnoult, P F Ray
Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive technologies have revolutionized the treatment of infertility, and some azoospermic men, those with a post-meiotic defect, can conceive following the use of viable spermatoza recovered from testicular or epididymal biopsies. Although male infertility is a multifactorial disease, it is believed that genetic factors are predominant in the etiology of azoospermia and severe oligozoospermia...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27739146/analysis-of-partial-azoospermia-factor-c-deletion-and-daz-copy-number-in-azoospermia-and-severe-oligozoospermia
#20
L Alimardanian, K Saliminejad, S Razi, A Ahani
Microdeletions of the azoospermia factor (AZF) regions in the Y chromosome are a well-known genetic cause of male infertility, resulting in impairment of spermatogenesis. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls. In total, 154 infertile men (113 patients with azoospermia, 41 with oligozoospermia) and 111 normozoospermic controls were analysed using PCR...
November 2016: Andrologia
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