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Sertoli cell only syndrom

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https://www.readbyqxmd.com/read/29161714/a-rare-cause-of-male-infertility-45-x-46-xy-mosaicism
#1
Emre Can Akinsal, Numan Baydilli, Ruslan Bayramov, Oguz Ekmekcioglu
OBJECTIVE: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. MATERIALS AND METHODS: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient's height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively...
November 21, 2017: Urologia Internationalis
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
#2
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/29026709/needle-aspiration-biopsy-of-seminiferous-tubules-nabst-as-a-diagnostic-method-in-korea
#3
Jay Ho Jung, Tae Ho Lee, Kyung Hwa Choi, Jae Yup Hong
To evaluate the diagnostic efficacy of needle aspiration biopsy of seminiferous tubules (NABST) and to represent the redistributed diagnostic results corresponding to testicular volumes and follicle-stimulating hormone (FSH) levels. In this retrospective study, we investigated 65 infertile men with either azoospermia or oligoasthenoteratozoospermia. Following NABST, specimens were stained with hematoxylin and eosin and classified into five histological types. With pre-procedure FSH levels and testicular volumes, we evaluated the probabilities of detecting sperms within biopsy specimens...
September 2017: Chonnam Medical Journal
https://www.readbyqxmd.com/read/28990672/microdissection-testicular-sperm-extraction-in-finland-results-of-the-first-100-patients
#4
Rauni Klami, Harri Mankonen, Antti Perheentupa
INTRODUCTION: Testicular microdissection sperm extraction (MD-TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non-obstructive azoospermia. MD-TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non-obstructive azoospermia have been operated on. MATERIAL AND METHODS: The average age was 33 years at the time of surgery. Forty-eight had a needle biopsy previously, 56% had testicular size less than 15ml...
October 9, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28816568/cul4b-mutations-are-uncommon-in-japanese-patients-with-sertoli-cell-only-syndrome-and-azoospermia
#5
T Miyamoto, M Iijima, T Shin, G Minase, H Ueda, H Okada, K Sengoku
No abstract text is available yet for this article.
August 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28748527/the-prevalence-of-dicer1-pathogenic-variation-in-population-databases
#6
Jung Kim, Amanda Field, Kris Ann P Schultz, D Ashley Hill, Douglas R Stewart
The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes (1,000 G) and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC...
November 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28635411/single-nucleotide-polymorphisms-in-the-human-rad21l-gene-may-be-a-genetic-risk-factor-for-japanese-patients-with-azoospermia-caused-by-meiotic-arrest-and-sertoli-cell-only-syndrome
#7
Gaku Minase, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Mikio Namiki, Kazuo Sengoku
Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28601408/expression-of-ciliated-bronchial-epithelium-1-during-human-spermatogenesis
#8
Christiane Pleuger, Daniela Fietz, Katja Hartmann, Hans-Christian Schuppe, Wolfgang Weidner, Sabine Kliesch, Mark Baker, Moira K O'Bryan, Martin Bergmann
OBJECTIVE: To define the precise cellular localization of ciliated bronchial epithelium 1 (CBE1) in the human testis and test its relationship to impaired spermatogenesis. DESIGN: Gene expression analysis, and histologic and immunohistochemical evaluation. SETTING: University research laboratories and andrologic outpatient clinic. PATIENT(S): Forty-three human testicular biopsies: 12 biopsies showing normal spermatogenesis (NSP), 8 with maturation arrest at level of spermatocytes (STA), 8 with maturation arrest at level of spermatids (SDA), 4 with scattered elongating spermatids, and 12 with Sertoli cell-only syndrome, with an additional 5 semen samples from healthy donors...
July 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28450650/y-chromosomal-microdeletion-in-idiopathic-azoospermic-and-severe-oligozoospermic-indonesian-men
#9
Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher
AIM: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. METHODS: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities...
January 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/28428940/factors-influencing-sperm-retrieval-following-testicular-sperm-extraction-in-nonobstructive-azoospermia-patients
#10
Peyman Salehi, Marzieh Derakhshan-Horeh, Zakiye Nadeali, Majid Hosseinzadeh, Erfan Sadeghi, Mohammad Hossein Izadpanahi, Mansour Salehi
OBJECTIVE: Azoospermia owing to testicular disorders is the most severe manifestation of male infertility. The main concern for patients with nonobstructive azoospermia (NOA) is the probability of successful sperm retrieval following testicular sperm extraction (TESE). Therefore, the goal of this study was to determine predictive factors correlated with sperm retrieval. METHODS: We assessed the testicular histopathological patterns, the choice of TESE surgical procedure, hormone levels, and chromosomal abnormalities in patients with NOA (n=170)...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28361811/predictive-value-of-fsh-testicular-volume-and-histopathological-findings-for-the-sperm-retrieval-rate-of-microdissection-tese-in-nonobstructive-azoospermia-a-meta-analysis
#11
Hao Li, Li-Ping Chen, Jun Yang, Ming-Chao Li, Rui-Bao Chen, Ru-Zhu Lan, Shao-Gang Wang, Ji-Hong Liu, Tao Wang
We performed this meta-analysis to evaluate the predictive value of different parameters in the sperm retrieval rate (SRR) of microdissection testicular sperm extraction (TESE) in patients with nonobstructive azoospermia (NOA). All relevant studies were searched in PubMed, Web of Science, EMBASE, Cochrane Library, and EBSCO. We chose three parameters to perform the meta-analysis: follicle-stimulating hormone (FSH), testicular volume, and testicular histopathological findings which included three patterns: hypospermatogenesis (HS), maturation arrest (MA), and Sertoli-cell-only syndrome (SCOS)...
March 24, 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/28359405/distribution-and-number-of-cajal-like-cells-in-testis-tissue-with-azoospermia
#12
Eray Hasirci, Tahsin Turunc, Nebil Bal, Mehmet Resit Goren, Huseyin Celik, Enis Kervancioglu, Ayhan Dirim, Mustafa Agah Tekindal, Hakan Ozkardes
We investigated the number and distribution of Cajal-like cells in patients with azoospermia. A total of 99 patients with non-obstructive azoospermia were divided into subgroups [19 patientsin hypospermatogenesis group (S1), 40 patients in maturation arrest group (S2), 20 patients in a Sertoli cell-only syndrome (S3), and 20 patients in a testicular atrophy and fibrosis group (S4)], and 20 patients with obstructive azoospermia group (S0). Sections stained with a c-kit antibody were studied by light microscopy to determine the number and distribution of Cajal-like cells in peritubular and perivascular areas of testis...
April 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28334509/disturbed-testicular-expression-of-the-estrogen-metabolizing-enzymes-cyp1a1-and-comt-in-infertile-men-with-primary-spermatogenic-failure-possible-negative-implications-on-sertoli-cells
#13
A Parada-Bustamante, C Molina, C Valencia, M Flórez, M C Lardone, F Argandoña, A Piottante, M Ebensperguer, P A Orihuela, A Castro
Estradiol (E2 ) is normally metabolized to hydroxyestradiols and methoxyestradiols by CYP1A1, CYP1B1 and COMT. However, an altered production of these metabolites by a disturbed expression of these enzymes is associated with reproductive and non-reproductive pathologies. In vitro studies suggest that increased hydroxyestradiols and methoxyestradiols intratesticular generation is related to male infertility, but no studies have explored whether infertile men have a disturbed testicular expression of the enzymes that generate these E2 metabolites...
May 2017: Andrology
https://www.readbyqxmd.com/read/28330469/preclinical-evaluation-of-a-tex101-protein-elisa-test-for-the-differential-diagnosis-of-male-infertility
#14
Dimitrios Korbakis, Christina Schiza, Davor Brinc, Antoninus Soosaipillai, Theano D Karakosta, Christine Légaré, Robert Sullivan, Brendan Mullen, Keith Jarvi, Eleftherios P Diamandis, Andrei P Drabovich
BACKGROUND: TEX101 is a cell membrane protein exclusively expressed by testicular germ cells and shed into seminal plasma. We previously verified human TEX101 as a biomarker for the differential diagnosis of azoospermia, and developed a first-of-its-kind TEX101 ELISA. To demonstrate the clinical utility of TEX101, in this work we aimed at evaluating ELISA performance in a large population of fertile, subfertile, and infertile men. METHODS: Mass spectrometry, size-exclusion chromatography, ultracentrifugation, and immunohistochemistry were used to characterize TEX101 protein as an analyte in seminal plasma...
March 23, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28299491/effects-of-androgen-receptor-mutation-on-testicular-histopathology-of-patient-having-complete-androgen-insensitivity
#15
Ihtisham Bukhari, Guangyuan Li, Liu Wang, Furhan Iqbal, Huan Zhang, Jiansheng Zhu, Hui Liu, Xiangdong Fang, Nasser M Al-Daghri, Howard J Cooke, Yuanwei Zhang, Xiaohua Jiang
Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient...
June 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/28213128/quantitative-proteomic-analysis-of-human-testis-reveals-system-wide-molecular-and-cellular-pathways-associated-with-non-obstructive-azoospermia
#16
Mehdi Alikhani, Mehdi Mirzaei, Marjan Sabbaghian, Pouria Parsamatin, Razieh Karamzadeh, Samane Adib, Niloofar Sodeifi, Mohammad Ali Sadighi Gilani, Masoud Zabet-Moghaddam, Lindsay Parker, Yunqi Wu, Vivek Gupta, Paul A Haynes, Hamid Gourabi, Hossein Baharvand, Ghasem Hosseini Salekdeh
Male infertility accounts for half of the infertility problems experienced by couples. Azoospermia, having no measurable level of sperm in seminal fluid, is one of the known conditions resulting in male infertility. In order to elucidate the complex molecular mechanisms causing male azoospermia, label-free quantitative shotgun proteomics was carried out on testicular tissue specimens from patients with obstructive azoospermia and non-obstructive azoospermia, including maturation arrest (MA) and Sertoli cell only syndrome (SCOS)...
February 15, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28190795/progress-in-understanding-the-molecular-functions-of-ddx3y-dby-in-male-germ-cell-development-and-maintenance
#17
REVIEW
Alexei A Kotov, Oxana M Olenkina, Baira K Godneeva, Vladimir E Adashev, Ludmila V Olenina
Human DDX3 paralogs are housed on the X chromosome (DDX3X) as well as in the non- recombining region Yq11 of the Y-chromosome (DDX3Y or DBY). A gene encoding RNA helicase DDX3Y is located in the AZoospermia Factor a (AZFa) region of the Y-chromosome and expressed only in male germ cells. Deletions encompassing the DDX3Y gene lead to azoospermia and cause Sertoli Cell-Only Syndrome (SCOS) in humans. SCOS is characterized by a complete germ cell lack with preservation of somatic Sertoli cells. This review summarizes current advances in the study of DDX3Y functions in maintenance and development of early male germ cells...
March 22, 2017: Bioscience Trends
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
#18
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/27853306/osr1-and-spak-cooperatively-modulate-sertoli-cell-support-of-mouse-spermatogenesis
#19
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
#20
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...
January 2017: Fertility and Sterility
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