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Sertoli cell only syndrom

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https://www.readbyqxmd.com/read/27853306/osr1-and-spak-cooperatively-modulate-sertoli-cell-support-of-mouse-spermatogenesis
#1
Yung-Liang Liu, Sung-Sen Yang, Shyi-Jou Chen, Yu-Chun Lin, Chin-Chen Chu, Hsin-Hui Huang, Fung-Wei Chang, Mu-Hsien Yu, Shih-Hua Lin, Gwo-Jang Wu, Huey-Kang Sytwu
We investigated the role of oxidative stress-responsive kinase-1 (OSR1) and STE20 (sterile 20)/SPS1-related proline/alanine-rich kinase (SPAK), upstream regulators of the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1)-essential for spermatogenesis-in mouse models of male fertility. Global OSR1(+/-) gene mutations, but not global SPAK(-/-) or Sertoli cell (SC)-specific OSR1 gene knockout (SC-OSR1(-/-)), cause subfertility with impaired sperm function and are associated with reduced abundance of phosphorylated (p)-NKCC1 but increased p-SPAK expression in testicular tissue and spermatozoa...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27793385/clinical-genetic-biochemical-and-testicular-biopsy-findings-among-1-213-men-evaluated-for-infertility
#2
Inge Ahlmann Olesen, Anna-Maria Andersson, Lise Aksglaede, Niels Erik Skakkebaek, Ewa Rajpert-de Meyts, Niels Joergensen, Anders Juul
OBJECTIVE: To study the pathologic findings among men evaluated for infertility. DESIGN: A retrospective, single-center, cross-sectional study. SETTING: University hospital-based research center. PARTICIPANT(S): We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009. INTERVENTIONS(S): None. MAIN OUTCOME MEASURE(S): Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27769104/overexpression-of-cyp19a1-aromatase-in-leydig-cells-is-associated-with-steroidogenic-dysfunction-in-subjects-with-sertoli-cell-only-syndrome
#3
M C Lardone, F Argandoña, M Flórez, A Parada-Bustamante, M Ebensperger, C Palma, A Piottante, A Castro
Several observational studies have showed a combination of lower testosterone (T) to LH ratio and higher estradiol (E2 ) to T ratio in secretory infertile men compared to men with normal spermatogenesis, suggesting a steroidogenic dysfunction of Leydig cells (Lc) that may involve increased aromatase activity. Low T/LH ratio is associated with Lc hyperplasia, which together with LH hyperstimulation may represent compensation for impaired T production. Aromatase expression and oestrogen production are mainly detected in Lc of the testis, although Sertoli and germ cells also contribute to testicular aromatase activity...
October 21, 2016: Andrology
https://www.readbyqxmd.com/read/27739607/multiple-roles-of-foxj3-in-spermatogenesis-a-lesson-from-foxj3-conditional-knockout-mouse-models
#4
Lili Ni, Hongchang Xie, Li Tan
The transcription factor FOXJ3 (Forkhead box J3) is highly expressed in spermatogonia and meiotic spermatocytes within mouse testes. Here, we addressed how FOXJ3 might participate in spermatogenesis using two conditional knockout mouse models in which the Foxj3 was deleted from either spermatogonia or meiotic spermatocytes. Both models exhibited complete male sterility, but distinct etiologies: Deleting FOXJ3 from spermatogonia using Foxj3(flox/flox) , Mvh-Cre mice caused Sertoli-cell-only syndrome in males...
October 14, 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27717557/expression-of-katanin-p80-in-human-spermatogenesis
#5
Christiane Pleuger, Daniela Fietz, Katja Hartmann, Wolfgang Weidner, Sabine Kliesch, Moira K O'Bryan, Adriaan Dorresteijn, Martin Bergmann
OBJECTIVE: To define the stage-by-stage expression of KATNB1 during human spermatogenesis. DESIGN: Gene expression analysis, histologic and immunohistochemical evaluation. SETTING: University research laboratories and andrological clinic. PATIENT(S): Eighty human testicular biopsy samples: 43 showing normal spermatogenesis, 9 with maturation arrest at level of spermatocytes, 8 with maturation arrest at level of spermatogonia, and 20 with a Sertoli cell only syndrome...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27709649/histological-alterations-in-leydig-cells-and-macrophages-in-azoospermic-men
#6
A M Mahran, D A Elgamal, H H Ghafeer, S A Abdel-Maksoud, A A Farrag
The study aimed to compare the histological features of Leydig cells and macrophages in the testicular interstitium of obstructive versus nonobstructive azoospermia. Thirty-nine azoospermic men undergoing testicular sperm extraction during intracytoplasmic sperm injection were allocated into obstructive azoospermia group (GI) and nonobstructive azoospermia group (GII) which was subdivided into Sertoli cell-only syndrome (GIIA), germ cell arrest (GIIB) and hypospermatogenesis (GIIC) subgroups. Serum LH, FSH and testosterone levels were measured...
October 6, 2016: Andrologia
https://www.readbyqxmd.com/read/27692601/deficient-expression-of-jmjd1a-histone-demethylase-in-patients-with-round-spermatid-maturation-arrest
#7
Zahra Eelaminejad, Raha Favaedi, Niloofar Sodeifi, Mohammad Ali Sadighi Gilani, Maryam Shahhoseini
JMJD1A (jumonji domain-containing 1A), a known histone H3K9 demethylase, has been identified as a critical epigenetic regulator in male germ cells, activating the sperm chromatin-packaging genes encoding protamines (PRM) and transition proteins (TNP) required for spermatid elongation and condensation. This research investigated the expression pattern of JMJD1A protein in testicular biopsies of 79 infertile men who had undergone testicular sperm extraction. Samples were classified into obstructive azoospermia (OA, n = 26), round spermatid maturation arrest (SMA, n = 29) and Sertoli cell only syndrome (SCOS, n = 24)...
September 22, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27566408/microrna-expression-profiles-in-testicular-biopsies-of-patients-with-impaired-spermatogenesis
#8
P Noveski, K Popovska-Jankovic, K Kubelka-Sabit, V Filipovski, S Lazarevski, T Plaseski, D Plaseska-Karanfilska
Spermatogenesis is a complex process that involves thousands of genes whose expression during different stages is strictly regulated. Small non-coding microRNAs play an important role in the posttranscriptional regulation of mRNA processing during spermatogenesis. Using Agilent SurePrint v16 microRNA 8 × 60 K microarray kit, we investigated the microRNA expression profiles of 24 formalin-fixed paraffin-embedded testicular biopsies from patients with hypospermatogenesis (n = 10), hypospermatogenesis and azoospermia factor c region on the Y chromosome (AZFc) deletion (n = 3), Sertoli cell-only syndrome (n = 3) and maturation arrest (n = 2), in comparison with subjects with normal spermatogenesis (n = 6)...
August 27, 2016: Andrology
https://www.readbyqxmd.com/read/27486954/highly-conserved-testicular-localization-of-claudin-11-in-normal-and-impaired-spermatogenesis
#9
Angelika Stammler, Benjamin Udo Lüftner, Sabine Kliesch, Wolfgang Weidner, Martin Bergmann, Ralf Middendorff, Lutz Konrad
In this study we tested expression of tight junction proteins in human, mouse and rat and analyzed the localization of claudin-11 in testis of patients with normal and impaired spermatogenesis. Recent concepts generated in mice suggest that the stage-specifically expressed claudin-3 acts as a basal barrier, sealing the seminiferous epithelium during migration of spermatocytes. Corresponding mechanisms have never been demonstrated in humans. Testicular biopsies (n = 103) from five distinct groups were analyzed: normal spermatogenesis (NSP, n = 28), hypospermatogenesis (Hyp, n = 24), maturation arrest at the level of primary spermatocytes (MA, n = 24), Sertoli cell only syndrome (SCO, n = 19), and spermatogonial arrest (SGA, n = 8)...
2016: PloS One
https://www.readbyqxmd.com/read/27374985/alteration-of-protein-prenylation-promotes-spermatogonial-differentiation-and-exhausts-spermatogonial-stem-cells-in-newborn-mice
#10
Fan Diao, Chen Jiang, Xiu-Xing Wang, Rui-Lou Zhu, Qiang Wang, Bing Yao, Chao-Jun Li
Spermatogenesis in adulthood depends on the successful neonatal establishment of the spermatogonial stem cell (SSC) pool and gradual differentiation during puberty. The stage-dependent changes in protein prenylation in the seminiferous epithelium might be important during the first round of spermatogenesis before sexual maturation, but the mechanisms are unclear. We have previous found that altered prenylation in Sertoli cells induced spermatogonial apoptosis in the neonatal testis, resulting in adult infertility...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27211570/discrimination-and-characterization-of-sertoli-cell-only-syndrome-in-non-obstructive-azoospermia-using-cell-free-seminal-ddx4
#11
Qiong Yu, Xiuli Gu, Xuejun Shang, Honggang Li, Chengliang Xiong
Cell-free seminal mRNA (cfs-mRNA) contains testis-specific transcripts from bilateral testes. This study determined the presence of DEAD box polypeptide 4 (DDX4) in cfs-mRNA to identify and characterize the incidence of Sertoli cell-only (SCO) syndrome in men with non-obstructive azoospermia (NOA). DDX4 cfs-mRNA was determined in 315 men with NOA, and compared with testicular samples obtained by microdissection from 19 NOA patients. Karyotype and azoospermia factor microdeletion analysis were performed, and clinical features were evaluated...
August 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27136193/expression-of-hovol2-in-the-xy-body-of-human-spermatocytes
#12
H Taniguchi, T Katano, K Nishida, I Yao, Y Morimoto, T Matsuda, S Ito
Male infertility is common at infertile clinics, and 10-20% of infertile males are azoospermic. Non-obstructive azoospermia is a complex multifactorial disease, and the process of spermatogenesis remains largely unknown. Ovol1 and Ovol2, a family of zinc finger transcription factors, are expressed in spermatocytes at the pachytene stage and are suggested to be critical regulators of pachytene progression in male germ cells. In this study, we examined the expression of human Ovol2 (hOvol2) in the seminiferous tubes of patients subjected to testicular sperm extraction...
May 2, 2016: Andrologia
https://www.readbyqxmd.com/read/27124672/sertoli-cell-only-syndrome-with-ambiguous-genitalia
#13
Fatih Gurbuz, Serdar Ceylaner, Seyda Erdogan, Ali Kemal Topaloglu, Bilgin Yuksel
The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS)...
July 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27029388/testis-ultrasound-in-klinefelter-syndrome-infertile-men-making-the-diagnosis-and-avoiding-inappropriate-management
#14
Laurence Rocher, Loris Moya, Jean Michel Correas, Pierre Mutuon, Sophie Ferlicot, Jacques Young, Vincent Izard, Gérard Benoit, Sylvie Brailly-Tabard, Marie France Bellin
OBJECTIVE: To compare the testicular Color Doppler ultrasound (US), hormone levels, and histological results from 67 infertile men with Klinefelter syndrome (KS), vs. 66 non-KS non-obstructive azoospermic men. METHODS: Scrotal US images were collected from 67 infertile KS and 66 non-obstructive, non-KS azoospermic men. The testis volume, echotexture, vascularity, and microliths were evaluated and graded. We defined the following echo pattern alteration groups: normal, striated, coarse, and measurable nodules...
August 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/26995389/distinctive-pattern-of-expression-of-spermatogenic-molecular-markers-in-testes-of-azoospermic-men-with-non-mosaic-klinefelter-syndrome
#15
Sandra E Kleiman, Leah Yogev, Ofer Lehavi, Haim Yavetz, Ron Hauser
PURPOSE: Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis. METHODS: Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group)...
June 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/26925412/sertoli-cell-only-syndrome-behind-the-genetic-scenes
#16
Katrien Stouffs, Alexander Gheldof, Herman Tournaye, Deborah Vandermaelen, Maryse Bonduelle, Willy Lissens, Sara Seneca
Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group), the sex chromosomes are involved. The majority of patients had a Klinefelter syndrome, followed by patients with Yq microdeletions...
2016: BioMed Research International
https://www.readbyqxmd.com/read/26876306/rna-helicase-belle-ddx3-is-essential-for-male-germline-stem-cell-maintenance-and-division-in-drosophila
#17
Alexei A Kotov, Oxana M Olenkina, Mikhail V Kibanov, Ludmila V Olenina
The present study showed that RNA helicase Belle (DDX3) was required intrinsically for mitotic progression and survival of germline stem cells (GSCs) and spermatogonial cells in the Drosophila melanogaster testes. We found that deficiency of Belle in the male germline resulted in a strong germ cell loss phenotype. Early germ cells are lost through cell death, whereas somatic hub and cyst cell populations are maintained. The observed phenotype is related to that of the human Sertoli Cell-Only Syndrome caused by the loss of DBY (DDX3) expression in the human testes and results in a complete lack of germ cells with preservation of somatic Sertoli cells...
June 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26843391/the-poly-a-binding-protein-genes-epab-pabpc1-and-pabpc3-are-differentially-expressed-in-infertile-men-with-non-obstructive-azoospermia
#18
Saffet Ozturk, Berna Sozen, Fatma Uysal, Ibrahim C Bassorgun, Mustafa F Usta, Gokhan Akkoyunlu, Necdet Demir
PURPOSE: Azoospermia is one of the major causes of male infertility and is basically classified into obstructive (OA) and non-obstructive azoospermia (NOA). The molecular background of NOA still largely remains elusive. It has been shown that the poly(A)-binding proteins (PABPs) essentially play critical roles in stabilization and translational control of the mRNAs during spermatogenesis. METHODS: In the present study, we aim to evaluate expression levels of the PABP genes, EPAB, PABPC1, and PABPC3, in the testicular biopsy samples and in the isolated spermatocyte (SC) and round spermatid (RS) fractions obtained from men with various types of NOA including hypospermatogenesis (hyposperm), RS arrest, SC arrest, and Sertoli cell-only syndrome (SCO)...
March 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/26556893/blood-testis-barrier-and-sertoli-cell-function-lessons-from-sccx43ko-mice
#19
REVIEW
Jonathan Gerber, Julia Heinrich, Ralph Brehm
The gap junction protein connexin43 (CX43) plays a vital role in mammalian spermatogenesis by allowing for direct cytoplasmic communication between neighbouring testicular cells. In addition, different publications suggest that CX43 in Sertoli cells (SC) might be important for blood-testis barrier (BTB) formation and BTB homeostasis. Thus, through the use of the Cre-LoxP recombination system, a transgenic mouse line was developed in which only SC are deficient of the gap junction protein, alpha 1 (Gja1) gene...
February 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/26473289/loss-of-gata4-in-sertoli-cells-impairs-the-spermatogonial-stem-cell-niche-and-causes-germ-cell-exhaustion-by-attenuating-chemokine-signaling
#20
Su-Ren Chen, Ji-Xin Tang, Jin-Mei Cheng, Jian Li, Cheng Jin, Xiao-Yu Li, Shou-Long Deng, Yan Zhang, Xiu-Xia Wang, Yi-Xun Liu
Sertoli cells, the primary somatic cell in the seminiferous epithelium, provide the spermatogonial stem cell (SSC) microenvironment (niche) through physical support and the expression of paracrine factors. However, the regulatory mechanisms within the SSC niche, which is primarily controlled by Sertoli cells, remain largely unknown. GATA4 is a Sertoli cell marker, involved in genital ridge initiation, sex determination and differentiation during the embryonic stage. Here, we showed that neonatal mice with a targeted disruption of Gata4 in Sertoli cells (Gata4(flox/flox); Amh-Cre; hereafter termed Gata4 cKO) displayed a loss of the establishment and maintenance of the SSC pool and apoptosis of both gonocyte-derived differentiating spermatogonia and meiotic spermatocytes...
November 10, 2015: Oncotarget
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