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Sertoli cell only syndrom

M C Lardone, F Argandoña, M Lorca, A Piottante, M Flórez, C Palma, M Ebensperger, A Castro
STUDY QUESTION: Is the expression of steroidogenic enzyme 17α-Hydroxylase/17,20-Lyase (CYP17A1) downregulated in Leydig cells (LCs) of men with spermatogenic failure and compensated impairment of LC function i.e. a low testosterone to LH (T/LH) ratio? SUMMARY ANSWER: Although the transcriptional expression of CYP17A1 is increased, its protein expression is decreased, in isolated LCs of men with spermatogenic failure and reduced serum T/LH. WHAT IS KNOWN ALREADY: Primary spermatogenic defects have been associated with functional and morphological abnormalities of LCs, characterized by decreased serum testosterone (T) levels, decreased T/LH, increased 17β-estradiol (E2) and E2/T ratio, and larger clusters of LCs (LC hyperplasia)...
February 9, 2018: Molecular Human Reproduction
Alper Eken, Feray Gulec
The aim of this study was to evaluate the predictive value of preoperative hormonal levels and pathology, as well as the outcome of microsurgical testicular sperm extraction in patients with non-obstructive azoospermia (NOA), presenting to our clinic for treatment of infertility. The records of 145 men with NOA who underwent microdissection testicular sperm extraction (micro-TESE) between March 2013 and November 2016 were studied. The patient's age, testicular volume, hormonal profile for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (TT), and testicular pathology were recorded...
February 2018: Kaohsiung Journal of Medical Sciences
Paula Aliberti, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Alberto J Solari, Roberta Sciurano, Mariana Costanzo, Gabriela Guercio, Diana Mónica Warman, Marcela Bailez, María Sonia Baquedano, Marco A Rivarola, Alicia Belgorosky, Esperanza Berensztein
Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim of this study was to investigate the consequences of the lack of AR activity on germ cell survival and the degree of testicular development reached by these patients by analyzing gonadal tissue from patients with AIS prior to Sertoli cell maturation at puberty. Twenty-three gonads from 13 patients with AIS were assessed and compared to 18 testes from 17 subjects without endocrine disorders...
January 24, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Wen Liu, Xuan Gao, Lei Yan, Hongli Liu, Ruimei Yu, Shidou Zhao, Jinlong Ma
To examine whether mutations of the CDK2 gene exist in Chinese men with non-obstructive azoospermia (NOA) with different histopathology, we recruited 175 Chinese men with idiopathic NOA who underwent testis biopsy, including hypospermatogenesis, germ cell maturation arrest and Sertoli cell only syndrome. Genomic DNA was extracted from peripheral blood samples. Subsequently, the seven exons of the CDK2 gene were amplified using polymerase chain reaction with specific primers, respectively. The polymerase chain reaction products were sequenced on an automated sequencer...
January 4, 2018: Reproductive Biomedicine Online
G Cito, P A Della Camera, S Degli Innocenti, M E Coccia, G Nesi, A Cocci, S Morselli, A Minervini, M Carini, M Serni, M Gacci, A Natali
Infertility occurs in up to 54% of men with bilateral undescended testes. Orchiectomy is considered the best therapeutic approach, especially when cryptorchidism is diagnosed in adulthood, due to a high risk of malignancy. A 33-year-old man was referred with a clinical presentation of empty scrotum and an ultrasonography and magnetic resonance imaging evaluation of intra-abdominal bilateral cryptorchidism. Follicle-stimulating hormone was 23.20 IU/L, luteinising hormone was 14.10 IU/L, total testosterone was 12...
December 15, 2017: Andrologia
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
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
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
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 of the men was 33 years at the time of surgery. Forty-eight had a needle biopsy previously and 56% had a testicular size <15 mL...
January 2018: Acta Obstetricia et Gynecologica Scandinavica
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
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
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
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
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
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
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
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
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
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
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
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