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Craig Niederberger
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April 2018: Journal of Urology
Csilla Krausz, Antoni Riera-Escamilla
Male infertility is a multifactorial pathological condition affecting approximately 7% of the male population. The genetic landscape of male infertility is highly complex as semen and testis histological phenotypes are extremely heterogeneous, and at least 2,000 genes are involved in spermatogenesis. The highest frequency of known genetic factors contributing to male infertility (25%) is in azoospermia, but the number of identified genetic anomalies in other semen and aetiological categories is constantly growing...
April 5, 2018: Nature Reviews. Urology
Keiko Horiuchi, Serafín Perez-Cerezales, Panagiotis Papasaikas, Priscila Ramos-Ibeas, Angela Patricia López-Cardona, Ricardo Laguna-Barraza, Noelia Fonseca Balvís, Eva Pericuesta, Raul Fernández-González, Benjamín Planells, Alberto Viera, Jose Angel Suja, Pablo Juan Ross, Francisco Alén, Laura Orio, Fernando Rodriguez de Fonseca, Belén Pintado, Juan Valcárcel, Alfonso Gutiérrez-Adán
The U2AF35-like ZRSR1 has been implicated in the recognition of 3' splice site during spliceosome assembly, but ZRSR1 knockout mice do not show abnormal phenotypes. To analyze ZRSR1 function and its precise role in RNA splicing, we generated ZRSR1 mutant mice containing truncating mutations within its RNA-recognition motif. Homozygous mutant mice exhibited severe defects in erythrocytes, muscle stretch, and spermatogenesis, along with germ cell sloughing and apoptosis, ultimately leading to azoospermia and male sterility...
April 3, 2018: Cell Reports
Rauni Klami, Harri Mankonen, Antti Perheentupa
Non-obstructive azoospermia (NOA) is the most severe form of male infertility, defined by lack of spermatozoa in the ejaculate caused by impaired spermatogenesis. The chance of biological fatherhood of these men has been improved since the introduction of microdissection testicular sperm extraction (MD-TESE) combined with intracytoplasmic sperm injection. A thorough patient evaluation preoperatively is essential to recognize any underlying conditions, and to assist in patient counseling on the sperm recovery rate and pregnancy results...
March 27, 2018: Reproductive Biology
Olayiwola O Oduwole, Hellevi Peltoketo, Ariel Poliandri, Laura Vengadabady, Marcin Chrusciel, Milena Doroszko, Luna Samanta, Laura Owen, Brian Keevil, Nafis A Rahman, Ilpo T Huhtaniemi
Spermatogenesis is regulated by the 2 pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This process is considered impossible without the absolute requirement of LH-stimulated testicular testosterone (T) production. The role of FSH remains unclear because men and mice with inactivating FSH receptor (FSHR) mutations are fertile. We revisited the role of FSH in spermatogenesis using transgenic mice expressing a constitutively strongly active FSHR mutant in a LH receptor-null (LHR-null) background...
March 26, 2018: Journal of Clinical Investigation
Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant affecting multiple traits. We detected six sibs afflicted with a unique combination of digit malformation that includes brachydactyly, symphalangism and zygodactyly plus infertility in males owing to azoospermia, sperm immotility or necrospermia, which we hypothesised to have arisen from a defect in a single gene...
March 26, 2018: European Journal of Human Genetics: EJHG
Shuting Xiong, Wenge Ma, Jing Jing, Jin Zhang, Cheng Dan, Jian-Fang Gui, Jie Mei
Besides its well-documented roles in cell proliferation, apoptosis and carcinogenesis, the function of p53-microRNA axis has been recently revealed in reproductive system. Recent studies indicated that miR-200 family members are dys-regulated in nonobstructive azoospermia patients, whereas their functions remain poorly documented. The aims of this study were to investigate the function of miR-200 family on zebrafish testis development and sperm activity. There was no significant difference in testis morphology and histology between wildtype and knockout zebrafish with deletion of miR-200 cluster on chromosome 6 (chr6-miR-200-KO) or on chromosome 23 (chr23-miR-200-KO)...
March 19, 2018: Endocrinology
Er-Lei Zhi, Guo-Qing Liang, Peng Li, Hui-Xing Chen, Ru-Hui Tian, Peng Xu, Zheng Li
This study was performed to investigate a potential marker for the presence of spermatozoa in the ejaculate following varicocelectomy in Chinese men with nonobstructive azoospermia and varicoceles. The micro-RNA (miR)-192a levels in seminal plasma and testicular tissue were evaluated by quantitative real-time polymerase chain reaction from 60 men with nonobstructive azoospermia and varicoceles (Group A: 27 men with spermatozoa found in the ejaculate after surgery; Group B: 33 men without spermatozoa found in the ejaculate after surgery) and 30 controls...
March 23, 2018: Asian Journal of Andrology
Maicon Pereira Lents, Larissa Pires Barbosa, Ana Lúcia Almeida Santana, Emmanuel Emydio Gomes Pinheiro, Lopes César Mugabe, Carmo Emanuel Almeida Biscarde, Cláudia Kazumi Kiya, William Morais Machado, Rosileia Silva Souza
The aim of this study was to evaluate the immuno-sterilizing action of anti-gonadotrophin-releasing hormone (anti-GnRH) vaccine in goats. Eighteen male goats were randomly distributed to receive three treatments: T1 (control) - whole animals, and T2 and T3 - application of 0.5 and 1.0 mL of anti-GnRH vaccine, respectively, with six replicates and one goat per experimental unit. Vaccine was administered at 8 months of age and 30 days after the first immunization. Testicular biometry was evaluated monthly, along with seminal collections, for the physical and morphological evaluation of semen...
March 15, 2018: Theriogenology
Candela Rocío González, Luciana Moverer, Ricardo Saúl Calandra, Silvia Inés González-Calvar, Alfredo Daniel Vitullo
The Deleted in AZoospermia (DAZ) gene family regulates the development, maturation and maintenance of germ cells and spermatogenesis in mammals. The DAZ family consists of two autosomal genes, Boule and Dazl (Daz-like), and the Daz gene on chromosome Y. The aim of this study was to analyze the localization of DAZL and BOULE during testicular ontogeny of the seasonal-breeding Syrian hamster, Mesocricetus auratus. We also evaluated the testicular expression of DAZ family genes under short- or long-photoperiod conditions...
March 25, 2018: Zygote: the Biology of Gametes and Early Embryos
Shigeru Nakamura, Yoshitomo Kobori, Yoshihiko Ueda, Yoko Tanaka, Hiromichi Ishikawa, Atsumi Yoshida, Momori Katsumi, Kazuki Saito, Akie Nakamura, Tsutomu Ogata, Hiroshi Okada, Hideo Nakai, Mami Miyado, Maki Fukami
STX2 encodes a sulfoglycolipid transporter. Although Stx2 nullizygosity is known to cause spermatogenic failure in mice, STX2 mutations have not been identified in humans. Here, we performed STX2 mutation analysis for 131 Japanese men clinically diagnosed with non-obstructive azoospermia. As a result, we identified a homozygous frameshift mutation [c.8_12delACCGG, p.(Asp3Alafs*8)] in one patient. The mutation-positive patient exhibited loss-of-heterozygosity for 58.4 Mb genomic regions involving STX2, suggesting possible parental consanguinity...
March 23, 2018: Human Mutation
Sabrina Z Jan, Aldo Jongejan, Cindy M Korver, Saskia K M van Daalen, Ans M M van Pelt, Sjoerd Repping, Geert Hamer
To prevent chromosomal aberrations to be transmitted to the offspring, strict meiotic checkpoints are in place to remove aberrant spermatocytes. However, in about 1% of all males these checkpoints cause complete meiotic arrest leading to azoospermia and subsequent infertility. We here unravel two clearly distinct meiotic arrest mechanisms that act during the prophase of human male meiosis. Type I arrested spermatocytes display severe asynapsis of the homologous chromosomes, disturbed XY-body formation and increased expression of the Y-chromosome encoded gene ZFY and seem to activate a DNA damage pathway leading to induction of p63, possibly causing spermatocyte apoptosis...
March 14, 2018: Development
C 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)...
March 15, 2018: Expert Review of Molecular Diagnostics
Zhiming Li, Shuai Chen, Yufeng Yang, Xuan Zhuang, Chi-Meng Tzeng
The objective of this study was to identify genes regulated by methylation that were involved in spermatogenesis failure in non-obstructive azoospermia (NOA). Testis biopsies of patients with NOA and OA (with normal spermatogenesis) were evaluated by microarray analysis to examine DNA methylation and mRNA expression using our established integrative approach. Of the coordinately hypermethylated and down-regulated gene list, zinc-finger CCHC-type containing 13 ( ZCCHC13 ) was present within the nuclei of germ cells of testicular tissues according immunohistochemistry, and there was decreased protein expression in men with NOA compared with OA controls...
December 2018: Cell Death Discovery
Z Cui, A Agarwal, B F da Silva, R Sharma, E Sabanegh
Nonobstructive azoospermia (NOA) patients present with high levels of serum FSH. At the protein level, the aetiology and pathways underlying different subtypes of NOA are unclear. The aim was to evaluate quantitatively differences in proteomic profiles of NOA patients presenting with normal serum FSH and normal testicular volume and high serum FSH and small testicular volume. The study comprised of 14 nonobstructive azoospermic men (N = 4; normal FSH and normal testicular volume and N = 10; high FSH and small testicular volume) and seven normozoospermic men...
March 12, 2018: Andrologia
F Mohammadpour Lashkari, M A Sadighi Gilani, A Ghaheri, M R Zamanian, P Borjian Boroujeni, A Mohseni Meybodi, M Sabbaghian
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history...
March 12, 2018: Andrologia
Frank Tüttelmann, Christian Ruckert, Albrecht Röpke
Infertility is a common condition estimated to affect 10-15% of couples. The clinical causes are attributed in equal parts to the male and female partners. Diagnosing male infertility mostly relies on semen (and hormone) analysis, which results in classification into the two major phenotypes of oligo- and azoospermia. The clinical routine analyses have not changed over the last 20 years and comprise screening for chromosomal aberrations and Y‑chromosomal azoospermia factor deletions. These tests establish a causal genetic diagnosis in about 4% of unselected men in infertile couples and 20% of azoospermic men...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
Mikkel Andreassen, Anders Juul, Ulla Feldt-Rasmussen, Niels Joergensen
Gonadotropins (luteinizing hormone (LH) and follicle stimulating hormone (FSH)) are released from the pituitary gland and stimulate Leydig cells to produce testosterone and initiates spermatogenesis. Little is known about how and when the deterioration of semen quality occurs in patients with adult onset gonadotropin insufficiency Design and methods: A retrospective study comprising 20 testosterone deficient men (median age 29 years) with acquired pituitary disease, who delivered semen for cryopreservation before initiation of testosterone therapy...
March 7, 2018: Endocrine Connections
Seda Karabulut, İlknur Keskin, Pelin Kutlu, Nuri Delikara, Özhan Atvar, Metin I Öztürk
Objective: Semen parameters are directly correlated with the infertility of the male. Incidence rates of male factor infertility, azoospermia and cryptozoospermia differ according to many factors such as geographic region, age, occupation and body weight. The aim of the present study is to determine the incidence of male factor infertility, azoospermia and cryptozoospermia among patients who have been admitted to three separate infertility clinics in Turkey for infertility investigation and analyze the outcomes of these patients...
March 2018: Turkish Journal of Urology
Geng An, Zihao Zou, Ryan Flannigan, Jianqiao Liu, Hongzi Du, Xin Fu, Feixiang Guo, Wen Zhang
BACKGROUND As a safety and efficacy protocol, oocyte vitrification has been widely used in IVF treatment. The aim of this study was to evaluate the outcome of ICSI-ET utilizing vitrified oocytes with sperm obtained from non-obstructive azoospermia (NOA) patients via micro-TESE. MATERIAL AND METHODS A total of 150 NOA patients underwent micro-TESE. Ten patients were unable to ejaculate and refused to accept TESA at the time of oocyte retrieval; later, these patients underwent TESA. A total of 174 obstructive azoospermia (OA) patients underwent TESA...
March 7, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
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