keyword
https://read.qxmd.com/read/38614076/toward-clinical-exomes-in-diagnostics-and-management-of-male-infertility
#1
JOURNAL ARTICLE
Kristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, Anu Valkna, Avirup Dutta, Kristjan Pomm, Olev Poolamets, Liina Nagirnaja, Erik Tamp, Eisa Mahyari, Vladimir Vihljajev, Stanislav Tjagur, Sofia Papadimitriou, Antoni Riera-Escamilla, Nassim Versbraegen, Ginevra Farnetani, Helen Castillo-Madeen, Mailis Sütt, Viljo Kübarsepp, Sven Tennisberg, Paul Korrovits, Csilla Krausz, Kenneth I Aston, Tom Lenaerts, Donald F Conrad, Margus Punab, Maris Laan
Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%)...
April 12, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38487118/improving-semen-quality-in-a-male-partner-with-abnormal-seminal-parameters-through-yoga-and-yoga-nidra-a-case-report
#2
Ritesh Jadhav, Akash More, Shilpa Dutta, Gauri Gajabe, Jarul Shrivastava, Saurabh Mehakar
This research presents a case study involving a 39-year-old male and his 34-year-old female partner seeking fertility consultation in Maharashtra, India, after struggling to conceive for over three years. Despite the male participant's lack of discernible medical conditions and typical lifestyle, semen analysis revealed severe oligozoospermia attributed to elevated stress levels from his physically demanding occupation and infertility-related emotional strain. The female partner exhibited normal blood parameters, including anti-Müllerian hormone (AMH)...
February 2024: Curēus
https://read.qxmd.com/read/38481882/a-case-study-based-on-the-effect-of-phytoestrogen-on-an-oligozoospermic-patient
#3
Ritesh Jadhav, Akash More, Namrata Choudhary, Jarul Shrivastava, Shilpa Dutta, Gauri Gajabe, Saurabh Mehakar
We presented a 30-year-old man suffering from severe oligozoospermia caused by substantial sperm maturation arrest around the spermatid stage. Additionally, he was suffering from a varicocele. For three years, the couple had been trying to conceive. The clinical and endocrinological evaluation of the woman revealed that she was medically fit to undergo pregnancy. We performed laparoscopic ligation of the spermatic vein to treat the varicocele. Semen analysis was conducted at the beginning of the clinical pregnancy journey and after three and six months of treatment, which included 80 mg/day of phytoestrogens for six months...
February 2024: Curēus
https://read.qxmd.com/read/38470159/downregulation-of-mir-211-expression-in-the-blood-plasma-of-infertile-men-compared-to-the-fertile-controls
#4
JOURNAL ARTICLE
Nasim Naeimi, Homa MohseniKouchesfehani, Hamidreza Mahmoudzadeh-Sagheb, Saeed Movahed, Bita Moudi, Azam Asemirad, Nadia Sheibak, Zahra Heidari
OBJECTIVES: Infertility is inability to conceive after 12 months of regular unprotected sex. MiRNA expression changes can serve as potential biomarkers for infertility in males due to impaired spermatogenesis. This research was conducted to measure the expression level of miR-211 in plasma samples as a factor identifying infertility in comparison with the control group. METHODS: In this study, blood plasma were taken from the infertile men (n = 103) nonobstructive azoospermia (NOA) or severe oligozoospermia (SO) and the control group (n = 121)...
March 12, 2024: International Journal of Urology: Official Journal of the Japanese Urological Association
https://read.qxmd.com/read/38383051/describing-patterns-of-familial-cancer-risk-in-subfertile-men-using-population-pedigree-data
#5
JOURNAL ARTICLE
Joemy M Ramsay, Michael J Madsen, Joshua J Horns, Heidi A Hanson, Nicola J Camp, Benjamin R Emery, Kenneth I Aston, Elisabeth Ferlic, James M Hotaling
STUDY QUESTION: Can we simultaneously assess risk for multiple cancers to identify familial multicancer patterns in families of azoospermic and severely oligozoospermic men? SUMMARY ANSWER: Distinct familial cancer patterns were observed in the azoospermia and severe oligozoospermia cohorts, suggesting heterogeneity in familial cancer risk by both type of subfertility and within subfertility type. WHAT IS KNOWN ALREADY: Subfertile men and their relatives show increased risk for certain cancers including testicular, thyroid, and pediatric...
February 22, 2024: Human Reproduction
https://read.qxmd.com/read/38379260/evaluation-of-telomere-length-reactive-oxygen-species-and-apoptosis-in-spermatozoa-of-patients-with-oligospermia
#6
JOURNAL ARTICLE
Ria Margiana, Reena Gupta, Watheq Mohammed Al-Jewari, Ahmed Hjazi, Hashem O Alsaab, Yasser Fakri Mustafa, Rajesh Singh, Ruiscul Thaibt, Safa Alkhayyat, Ahmed Jaber Ibrahim
50% of cases of infertility are caused by male factor, which acquired or congenital problems may bring on. Male infertility can be caused by oligospermia and asthenozoospermia, which are common. Since the same mutations that cause azoospermia in some people also cause oligozoospermia in others, oligozoospermia may be thought of as a less severe form of azoospermia. Studies have demonstrated telomere length, catalase activity, super oxide dismutase (SOD), and DNA fragmentation can be influential factors for male infertility...
March 2024: Cell Biochemistry and Function
https://read.qxmd.com/read/38348386/two-tumor-types-in-a-unilateral-testis-in-a-patient-with-severe-oligozoospermia-and-a-history-of-cryptorchidism-surgery-a-case-report
#7
Hiroki Tsujioka, Kei-Ichiro Uemura, Akiyoshi Osaka, Toshiyuki Iwahata, Akiko Fujii, Shinichi Ban, Hiroshi Okada, Kazutaka Saito
Testicular cancer, the most common cancer among young male adults, is associated with infertility. A 38-year-old male patient was admitted to Dokkyo Medical University Saitama Medical Center, Japan, with infertility associated with severe oligozoospermia. Scrotal ultrasonography revealed two distinct tumors in the left testis: A mass with abundant blood flow on the cranial side and a mass with poor blood flow on the caudal side. Additional analysis revealed mild elevation of intact human chorionic gonadotropin (hCG) levels (tumor marker level assessment), high testosterone and low luteinizing hormone and follicle-stimulating hormone levels (hormonal level assessment) and severe oligoasthenozoospermia (semen assessment)...
March 2024: Oncology Letters
https://read.qxmd.com/read/38305414/changes-in-environmental-exposures-over-decades-may-influence-the-genetic-architecture-of-severe-spermatogenic-failure
#8
JOURNAL ARTICLE
Miriam Cerván-Martín, Sara González-Muñoz, Andrea Guzmán-Jiménez, Inmaculada Higueras-Serrano, José A Castilla, Nicolás Garrido, Saturnino Luján, Lluís Bassas, Susana Seixas, João Gonçalves, Alexandra M Lopes, Sara Larriba, Rogelio J Palomino-Morales, Lara Bossini-Castillo, F David Carmona
STUDY QUESTION: Do the genetic determinants of idiopathic severe spermatogenic failure (SPGF) differ between generations? SUMMARY ANSWER: Our data support that the genetic component of idiopathic SPGF is impacted by dynamic changes in environmental exposures over decades. WHAT IS KNOWN ALREADY: The idiopathic form of SPGF has a multifactorial etiology wherein an interaction between genetic, epigenetic, and environmental factors leads to the disease onset and progression...
February 1, 2024: Human Reproduction
https://read.qxmd.com/read/38197754/an-analysis-of-y-chromosome-microdeletion-in-infertile-korean-men-with-severe-oligozoospermia-or-azoospermia
#9
JOURNAL ARTICLE
Tae Ho Lee, Seung-Hun Song, Dae Keun Kim, Sung Han Shim, Daeun Jeong, Dong Suk Kim
PURPOSE: Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male infertility, include Y-chromosome microdeletions. We investigated clinical data and patterns of Y-chromosome microdeletions in Korean infertile men. MATERIALS AND METHODS: A total of 919 infertile men whose sperm concentration was ≤5 million/mL in two consecutive analyses were investigated for Y-chromosome microdeletion...
January 2024: Investigative and Clinical Urology
https://read.qxmd.com/read/38196937/the-impact-of-using-donor-sperm-after-icsi-failure-in-severe-oligozoospermia-on-male-mental-health-and-erectile-function
#10
JOURNAL ARTICLE
Ying Yin, Ke Wang, Yan Xu, Xin Huang, Jinxia Zheng, Yuping Fan, Jie Bai
OBJECTIVE: To analyze the mental health and erectile function status of men using sperm donor during pregnancy after ICSI failure in severe oligoasthenospermia and to provide reference for clinical implementation of more targeted psychological intervention and nursing for this group. METHODS: A total of 410 sterile men who received assisted pregnancy treatment in our hospital from December 2020 to December 2022 and met the inclusion and exclusion criteria were collected as the study subjects...
2024: Journal of Multidisciplinary Healthcare
https://read.qxmd.com/read/38053137/y-chromosome-microdeletions-in-chinese-men-with-infertility-prevalence-phenotypes-and-intracytoplasmic-sperm-injection-outcomes
#11
JOURNAL ARTICLE
Dongjia Chen, Guoqing Fan, Xianqing Zhu, Qinyun Chen, Xuren Chen, Feng Gao, Zexin Guo, Peng Luo, Yong Gao
BACKGROUND: The incidence of Y chromosome microdeletions varies among men with infertility across regions and ethnicities worldwide. However, comprehensive epidemiological studies on Y chromosome microdeletions in Chinese men with infertility are lacking. We aimed to investigate Y chromosome microdeletions prevalence among Chinese men with infertility and its correlation with intracytoplasmic sperm injection (ICSI) outcomes. METHODS: This single-center retrospective study included 4,714 men with infertility who were evaluated at the Reproductive Center of the First Affiliated Hospital of Sun Yat-sen University between May 2017 and January 2021...
December 5, 2023: Reproductive Biology and Endocrinology: RB&E
https://read.qxmd.com/read/38028840/interleukin-17-and-growth-differentiation-factor-9-influence-in-a-sample-of-iraqi-infertile-males
#12
JOURNAL ARTICLE
D S Al-Rubaye, H Mohammed Hamza, Q Ahmed Al-Khafaji
Infertility is defined as the inability of couples to conceive after 1 year of regular unprotected intercourse, which affects 10-15% of couples. The present study aimed to investigate the influence of Interleukin-17 (IL-17) and growth differentiation factor 9 (GDF9) on three groups of infertile males, including control, azoospermia, and oligozoospermia. In total, this study was performed on 93 participants, consisting of 18, 65, and 10 subjects in the Azoospermia, oligozoospermia, and control groups, respectively...
June 2023: Archives of Razi Institute
https://read.qxmd.com/read/38000348/icsi-outcome-after-microdissection-testicular-sperm-extraction-testicular-sperm-aspiration-and-ejaculated-sperm
#13
JOURNAL ARTICLE
Rauni Klami, Candido Tomás, Harri Mankonen, Antti Perheentupa
We conducted a case-controlled single-center cohort study to evaluate the intracytoplasmic sperm injection (ICSI) outcome in severe male infertility with different methods of sperm obtention. The data was compiled from a tertiary university hospital. The micro-TESE procedures were performed from 2008 to 2023, with a sperm recovery rate (SRR) of 45 %. The ICSI treatments were carried out between 2011 and 2023. The aim of the study was to compare the ICSI outcome using sperm obtained by microdissection testicular extraction (micro-TESE), testicular sperm aspiration (TESA), and ejaculated sperm with sperm concentration less than 15 million per milliliter...
November 23, 2023: Reproductive Biology
https://read.qxmd.com/read/37969768/proteomic-approach-towards-identification-of-seminal-fluid-biomarkers-from-individuals-with-severe-oligozoospermia-cryptozoospermia-and-non-obstructive-azoospermia-a-pilot-study
#14
JOURNAL ARTICLE
Karolina Nowicka-Bauer, Marzena Kamieniczna, Marta Olszewska, Maciej Krzysztof Kurpisz
BACKGROUND: Infertility becomes a global problem that affects to the same extent females and males. As reasons of male infertility can differ among individuals, the accurate diagnostics is essential for effective treatment. The most problematic both in diagnostics and in treatment are disturbances of spermatogenesis. Seminal fluid is rich in proteins that potentially can serve as markers for male infertility and among them, markers of spermatogenesis which are highly desired. METHODS: To find biomarkers of spermatogenesis, we applied comparative proteomics using nano ultra performance liquid chromatography and tandem mass spectrometry (nanoUPLC-MS/MS) followed by single-sample Western blotting (WB) using seminal fluid samples from males with different types of infertility including non-obstructive azoospermia (NOA), cryptozoospermia (C) and severe oligozoospermia (SO)...
October 31, 2023: Translational Andrology and Urology
https://read.qxmd.com/read/37947911/detection-of-azfc-gene-deletion-in-a-cohort-of-egyptian-patients-with-idiopathic-male-infertility
#15
JOURNAL ARTICLE
Maha M Eid, Ola M Eid, Amany H Abdelrahman, Islam F S Abdelrahman, Elshaimaa A F Aboelkomsan, Rania M A AbdelKader, Mirhane Hassan, Marwa Farid, Alshaymaa A Ibrahim, Safa N Abd El-Fattah, Rana Mahrous
BACKGROUND: The deletions of azoospermic factor regions (AZF) are considered risk factor of spermatogenic failure. AZF duplications or complex copy number variants (CNVs) were rarely studied because STS-PCR could not always detect these changes. The application of multiplex ligation-dependent probe amplification (MLPA) as a valuable test for detection of the deletion and or duplication was introduced to investigate the AZF sub-region CNVs. The MLPA technique is still not applied on a large scale, and the publications in this area of research are limited...
November 10, 2023: Journal, Genetic Engineering & Biotechnology
https://read.qxmd.com/read/37779907/a-rare-case-of-mosaic-klinefelter-syndrome-in-a-45-year-old-man-leading-to-successful-live-birth-through-ejaculated-spermatozoa-a-case-report-and-literature-review
#16
Hossam Elzeiny, Franca Agresta, John Stevens, David K Gardner
Background: Men diagnosed with Klinefelter syndrome (KS) commonly exhibit non-obstructive azoospermia or rarely having sperm in their ejaculate, rendering them traditionally considered sterile prior to the introduction of intracytoplasmic sperm injection (ICSI). The presence of mosaic KS may mask the classical phenotype, resulting in underdiagnosis throughout their lifetime. Surgical sperm retrieval through Microdissection Testicular Sperm Extraction (Micro-TESE) combined with ICSI has become the gold standard approach, maximizing reproductive outcomes in these individuals...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37761825/mammal-reproductive-homeobox-rhox-genes-an-update-of-their-involvement-in-reproduction-and-development
#17
REVIEW
Morgane Le Beulze, Cécile Daubech, Aissatu Balde-Camara, Farah Ghieh, François Vialard
The reproductive homeobox on the X chromosome (RHOX) genes were first identified in the mouse during the 1990s and have a crucial role in reproduction. In various transcription factors with a key regulatory role, the homeobox sequence encodes a "homeodomain" DNA-binding motif. In the mouse, there are three clusters of Rhox genes (α, β, and γ) on the X chromosome. Each cluster shows temporal and/or quantitative collinearity, which regulates the progression of the embryonic development process...
August 25, 2023: Genes
https://read.qxmd.com/read/37742130/impact-of-cushing-s-syndrome-on-the-gonadotrope-axis-and-testicular-functions-in-men
#18
JOURNAL ARTICLE
Georgios E Papadakis, Benedicte de Kalbermatten, Alexandre Dormoy, Sylvie Salenave, Severine Trabado, Oceana Vieira-Pinto, Carine Richa, Peter Kamenicky, Philippe Chanson, Luigi Maione, Nelly Pitteloud, Jacques Young
STUDY QUESTION: Does Cushing's syndrome (CS) differently affect the gonadotrope axis and testicular functions (GA/TF) according to the hypercortisolism intensity and underlying etiology? SUMMARY ANSWER: Endogenous cortisol excess caused by CS leads to varying degrees of hypogonadotropic hypogonadism (HH) with more severe GA/TF impairment and altered spermatogenesis in men with intense hypercortisolism associated with paraneoplastic/ectopic adrenocorticotrophic hormone (ACTH) secretion (EAS)...
September 23, 2023: Human Reproduction
https://read.qxmd.com/read/37724144/gene-polymorphism-microdeletion-and-gene-expression-of-prm1-prm2-azfc-in-infertile-males
#19
JOURNAL ARTICLE
Nashwah Jabbar Kadhim, Narges Dastmalchi, Parisa Banamolaei, Reza Safaralizadeh
BACKGROUND: Background: Male infertility contributes to roughly 15% of all infertility cases in couples. The most common cause of male infertility is azoospermia, which is caused by genetic mutations. The connection between various single nucleotide polymorphisms in the PRM genes and AZF region microdeletions with male infertility has not been reported. METHODS: In this case-control study, 100 infertile males (33 with azoospermia, 48 with oligozoospermia, and 19 with severe oligozoospermia) were chosen as the study subjects, and 100 fertile males were selected...
April 2023: Reports of Biochemistry & Molecular Biology
https://read.qxmd.com/read/37706229/tip-microvapour-fast-freezing-a-novel-easy-method-for-cryopreserving-severe-oligozoospermic-samples
#20
JOURNAL ARTICLE
Sara Dabizzi, Costanza Calamai, Selene Degl'Innocenti, Luca Boni, Linda Vignozzi, Mario Maggi, Elisabetta Baldi, Monica Muratori
BACKGROUND: Sperm cryopreservation is an important procedure for oligozoospermic subjects at risk of azoospermia and after surgical recovery of spermatozoa in non-obstructive azoospermic men. Conventional procedures for sperm cryopreservation might be, however, not suitable for samples with a very low sperm number. OBJECTIVES: In this pilot study, we investigated the recoveries of sperm motility and viability in severe oligozoospermic subjects (n = 39) after cryopreservation with a tip-microVapour Fast Freezing, a procedure previously developed by our group for men with good semen quality...
September 14, 2023: Andrology
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