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https://www.readbyqxmd.com/read/28799634/effectiveness-of-highly-purified-urofollitropin-treatment-in-patients-with-idiopathic-azoospermia-before-testicular-sperm-extraction
#1
Andrea Cocci, Gianmartin Cito, Giorgio I Russo, Marco Falcone, Marco Capece, Massimiliano Timpano, Pier Andrea Della Camera, Simone Morselli, Giovanni Tasso, Girolamo Morelli, Giuseppe Morgia, Andrea Minervini, Sergio Serni, Marco Carini, Alessandro Natali, Mauro Gacci
INTRODUCTION: Recent evidences demonstrated that male factor alone is responsible for about 30% cases of infertility. Human follicle-stimulating hormone (hFSH) has been introduced to increase sperm concentration, spermatogonial population, or both natural or assisted pregnancy rates (PRs) in oligozoospermic subjects with normal concentrations of gonadotropins. METHODS: Fifty infertile men affected by idiopathic azoospermia were enrolled in this study, after undergoing medical history, physical and clinical examination, baseline semen parameters and hormonal plasma concentrations...
August 7, 2017: Urologia
https://www.readbyqxmd.com/read/28778097/progress-and-future-prospect-of-in-vitro-spermatogenesis
#2
REVIEW
Fahar Ibtisham, Jiang Wu, Mei Xiao, Lilong An, Zachary Banker, Aamir Nawab, Yi Zhao, Guanghui Li
Infertility has become a major health issue in the world. It affects the social life of couples and of all infertility cases; approximately 40-50% is due to "male factor" infertility. Male infertility could be due to genetic factors, environment or due to gonadotoxic treatment. Developments in reproductive biotechnology have made it possible to rescue fertility and uphold biological fatherhood. In vitro production of haploid male germ cell is a powerful tool, not only for the treatment of infertility including oligozoospermic or azoospermic patient, but also for the fertility preservation in pre-pubertal boys whose gonadal function is threatened by gonadotoxic therapies...
July 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28741070/late-onset-x-linked-adrenal-hypoplasia-dax-1-nr0b1-two-new-adult-onset-cases-from-a-single-center
#3
Nikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, Julie Lynch, Carlos F Lagos, John C Achermann, Robert D Murray
PURPOSE: DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Presentation is typically with adrenal insufficiency (AI) during infancy or childhood. To date only eight cases/kindreds are reported to have presented in adulthood. METHODS: We describe two new cases of men with DAX-1 mutations who presented in adulthood and who were diagnosed at a large University Hospital...
July 24, 2017: Pituitary
https://www.readbyqxmd.com/read/28716478/-evaluation-of-practices-and-costs-of-vasectomy-french-monocentric-experience
#4
A Hourié, M Baron, J D Rebibo, A Giwerc, N Rives, L Sibert
INTRODUCTION: Since the law of 4 July 2001, vasectomy has been recognized as a method of male contraception. We report the experience of vasectomy practice in a hospital-university center. METHODS: A monocentric retrospective cohort study of 45 patients who benefited from a contraceptive vasectomy between July 2001 and May 2016. For each patient were studied: modalities of implementation, compliance with the recommendations of the 2001 law, costs and benefits generated by the intervention, the effectiveness of the gesture on the control spermograms, the satisfaction of the patients by a telephone questionnaire...
July 14, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28715980/clinical-aspects-of-infertile-47-xyy-patients-a-retrospective-study
#5
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
47,XYY syndrome is a sex chromosomal anomaly in men, which may be associated with infertility and has an incidence of 0.1% of male births. The clinical and paraclinical characteristics of men suffering from this anomaly have not been fully described. In this retrospective study, we present 37 cases of 47,XYY infertile men with sperm counts varying from normal to azoospermia, referred to the Genetics Laboratory at the Royan Institute, Iran. Thirteen individuals were mosaic and 24 non-mosaics. Non-mosaic patients were classified as azoospermic (nine cases) and normospermic/oligozoospermic men (15 cases)...
July 18, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28713994/molecular%C3%A2-cytogenetic-study-of-de-novo-mosaic-karyotype-45-x-46-x-i-yq-46-x-idic-yq-in-an-azoospermic-male-case-report-and-literature-review
#6
Yuting Jiang, Ruixue Wang, Linlin Li, Lintao Xue, Shu Deng, Ruizhi Liu
The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process...
September 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28712886/impacts-of-abstinence-time-on-semen-parameters-in-a-large-population-based-cohort-of-subfertile-men
#7
Sorena Keihani, James R Craig, Chong Zhang, Angela P Presson, Jeremy B Myers, William O Brant, Kenneth I Aston, Benjamin R Emery, Timothy G Jenkins, Douglas T Carrell, James M Hotaling
OBJECTIVES: To assess the effects of abstinence time on semen parameters in normozoospermic and oligozoospermic men using a large cohort of subfertile men. PATIENTS AND METHODS: From 2002-2013, we retrospectively reviewed data from 15623 patients seen at our fertility clinic. Data on patient age and semen parameters were extracted along with abstinence time. Abstinence time was categorized into 4 groups (≤2 days; >2 & ≤5 days; >5 & ≤7 days; >7 days)...
July 13, 2017: Urology
https://www.readbyqxmd.com/read/28670430/sperm-retrieval-in-patients-with-klinefelter-syndrome-a-skewed-regression-model-analysis
#8
Mohammad Chehrazi, Abbas Rahimiforoushani, Marjan Sabbaghian, Keramat Nourijelyani, Mohammad Ali Sadighi Gilani, Mostafa Hoseini, Samira Vesali, Mehdi Yaseri, Ahad Alizadeh, Kazem Mohammad, Reza Omani Samani
BACKGROUND: The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed to evaluate skewed regression model analysis for data collected from microsurgical testicular sperm extraction (micro-TESE) among azoospermic patients with and without non-mosaic KS syndrome...
July 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28659371/mild-androgen-insensitivity-syndrome-mais-the-identification-of-c-1783c-t-mutation-in-two-unrelated-infertile-men
#9
Ghalia Abou Alchamat, Ammar Madania, Marwan Alhalabi
Two unrelated men complaining of primary male infertility presented to Orient Hospital in Damascus city. Physical examination showed moderate hypoandrogenic features. Both men were azoospermic. Hormone profiles revealed an elevation of follicle-stimulating hormone in one patient, but all the other hormones tested were within normal limits for both patients. Further genetic analyses, including karyotype and microdeletions in the AZF region of the Y chromosome, were normal in both patients. Mild androgen insensitivity syndrome was expected in the two patients...
June 28, 2017: BMJ Case Reports
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
August 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
#17
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
#18
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
#19
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
#20
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
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