LIVEBIRTH ACHIEVED IN A CASE OF HYPERGONADOTROPIC HYPOGONADISM NONOBSTRUCTIVE AZOOSPERMIA, TREATED WITH GnRH AGONIST AND GONADOTROPHINS
The objective of this study was to investigate if patients with hypergonadotropic hypogonadism non-obstructive azoospermia (NOA) benefit from pituitary blockage with GnRH agonist followed by gonadotrophin stimulation. (Source: Fertility and Sterility)
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Mauro Bibancos De Rose, Daniela Paes de Almeida Ferreira Braga, Amanda Souza Setti, Assumpto Iaconelli, Edson Borges, Andrea Garolla, Carlo Foresta Source Type: research
R-spondin 1 gene variant associated with 46,xx difference of sex development
R-spondin 1, encoded by RSPO1, is important for the differentiation of the bipotential gonad into the ovary. Rare homozygous RSPO1 frameshift variants, deletions, and intronic variants with exon skipping have been reported in four families with 46,XX, SRY negative sex reversal. We sought to characterize a novel RSPO1 homozygous exonic missense variant in a man with 46,XX difference of sex development (DSD), hypospadias, hypergonadotropic hypogonadism, azoospermia, and palmoplantar hyperkeratosis. (Source: Fertility and Sterility)
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Robert A. Roman, Lynn P. Chorich, Hyung-Goo Kim, Lawrence C. Layman Source Type: research
A novel epigenetic-based test to predict tese and mtese outcomes
Affecting 1% of men, non-obstructive azoospermia (NOA) is the absence of sperm in the ejaculate, and is the most severe form of male infertility. Currently, men with NOA have decreased chances of conceiving a child of their own. Despite recent progress in reproductive medicine, men with NOA have essentially one invasive and expensive procedure to isolate sperm (microdissection testicular sperm extraction or mTESE). Unfortunately, mTESE has a ∼50% failure rate. Here we present the use of an innovative DNA methylation-based technology to non-invasively predict the presence of sperm in the testicle of men with NOA. (Source:...
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Kristin Brogaard, Larry Lipshultz, Andy Olson, Ryan Miller, Tim G. Jenkins Source Type: research
Comparative analysis of semen microbiome in men with non-obstructive azoospermia and fertile controls using next generation sequencing
There is evidence that the male reproductive organs contain a diverse resident population of microbes termed the microbiome. The microbiome is thought to be present in and different between healthy and diseased states. The advent of next generation sequencing has allowed characterization of the semen microbiome. We hypothesized that the semen microbiome profile would differ in men with non-obstructive azoospermia (NOA) as compared to that of fertile controls (FC) because prior work has shown alterations in the semen microbiome composition of men with male infertility conditions including obstructive azoospermia. (Source: F...
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Katherine Campbell, Maria Camila Suarez Arbelaez, Kajal Khodamoradi, Alexandra Varnum, Emad Ibrahim, Scott Lundy, Ranjith Ramasamy Source Type: research
The assessment of sperm retrieval rates and clinical outcomes with testicular sperm extraction with respect to the etiology of azoospermia
Sperm retrieval rates (SRR) and clinical outcomes after intracytoplasmic sperm injection (ICSI) in testicular sperm extraction (TESE) cases in relation to the etiology of azoospermia have not well been investigated yet. Here we report our latest nine-year experience in TESE. (Source: Fertility and Sterility)
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Yuka Iwamoto, Shimpei Mizuta, Kohei Yamaguchi, Takumi Takeuchi, Hidehiko Matsubayashi, Tomomoto Ishikawa Source Type: research
GSE212733 Phase-separated CCER1 coordinates histone-to-protamine transition and fertility
In conclusion, we propose that nuclear CCER1 is a novel phase-separated condensate that links histone epigenetic modifications, sperm HTP transitions, chromatin condensation, and male fertility. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - September 29, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Other Mus musculus Source Type: research
Fertility Outcomes in Men with Prior History of Anabolic Steroid Use
To study sperm parameters recovery and fertility outcomes in men with azoospermia or severe oligospermia caused by anabolic steroid use who underwent a standardized treatment regimen for spermatogenesis recovery. (Source: Fertility and Sterility)
Source: Fertility and Sterility - September 25, 2023 Category: Reproduction Medicine Authors: Braian R. Ledesma, Alexander Weber, Greeshma Venigalla, Akhil Muthigi, Jamie Thomas, Manish Narasimman, Joshua White, Ranjith Ramasamy Tags: Andrology Source Type: research
Advances of three-dimensional (3D) culture systems for in vitro spermatogenesis
Stem Cell Res Ther. 2023 Sep 21;14(1):262. doi: 10.1186/s13287-023-03466-6.ABSTRACTThe loss of germ cells and spermatogenic failure in non-obstructive azoospermia are believed to be the main causes of male infertility. Laboratory studies have used in vitro testicular models and different 3-dimensional (3D) culture systems for preservation, proliferation and differentiation of spermatogonial stem cells (SSCs) in recent decades. The establishment of testis-like structures would facilitate the study of drug and toxicity screening, pathological mechanisms and in vitro differentiation of SSCs which resulted in possible treatmen...
Source: Cell Research - September 22, 2023 Category: Cytology Authors: Maryam Salem Farnaz Khadivi Parinaz Javanbakht Sina Mojaverrostami Mehdi Abbasi Narjes Feizollahi Yasaman Abbasi Ehsan Heidarian Farzane Rezaei Yazdi Source Type: research
Aberrant histone methylation in mouse early preimplantation embryos derived from round spermatid injection
In this study, we analyzed other histone modifications to explore unknown abnormalities. H3K36me3 showed an increased methylation state compared to ICSI-derived embryos but not for H3K4me3. Abnormal H3K36me3 was corrected until 2-cell stage embryos, suggesting a long window of reprogramming ability in ROSI-embryos. Treatment with TSA of ROSI-zygotes, which was reported to be capable of correcting ectopic DNA methylation in ROSI-zygotes, caused abnormalities of H3K36me3 in male and female PN (fPN) of the zygotes. In contrast, round spermatid TSA treatment before ROSI, which was reported to improve the preimplantation develo...
Source: Biochemical and Biophysical Research communications - September 22, 2023 Category: Biochemistry Authors: Masatoshi Ooga Yasuyuki Kikuchi Daiyu Ito Kousuke Kazama Rei Inoue Mizuki Sakamoto Sayaka Wakayama Teruhiko Wakayama Source Type: research
Aberrant histone methylation in mouse early preimplantation embryos derived from round spermatid injection
In this study, we analyzed other histone modifications to explore unknown abnormalities. H3K36me3 showed an increased methylation state compared to ICSI-derived embryos but not for H3K4me3. Abnormal H3K36me3 was corrected until 2-cell stage embryos, suggesting a long window of reprogramming ability in ROSI-embryos. Treatment with TSA of ROSI-zygotes, which was reported to be capable of correcting ectopic DNA methylation in ROSI-zygotes, caused abnormalities of H3K36me3 in male and female PN (fPN) of the zygotes. In contrast, round spermatid TSA treatment before ROSI, which was reported to improve the preimplantation develo...
Source: Biochemical and Biophysical Research communications - September 22, 2023 Category: Biochemistry Authors: Masatoshi Ooga Yasuyuki Kikuchi Daiyu Ito Kousuke Kazama Rei Inoue Mizuki Sakamoto Sayaka Wakayama Teruhiko Wakayama Source Type: research
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
Conclusion
LP GS is a promising, robust alternative to CMA in clinical settings. A total of 25 M UAHRs are sufficient for detecting aneuploidies and most microdeletions/microduplications. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Qian, Y., Sun, Y., Guo, X., Song, L., Sun, Y., Gao, X., Liu, B., Xu, Y., Chen, N., Chen, M., Luo, Y., Qiao, Z., Fan, L., Man, J., Zhang, K., Wang, X., Rong, T., Wang, Z., Liu, F., Zhao, J., Wei, X., Chen, M., Peng, Z., Peng, H., Sun, J., Dong, M. Tags: Copy-number variation Source Type: research
In vitro spermatogenesis in artificial testis: current knowledge and clinical implications for male infertility
Cell Tissue Res. 2023 Sep 18. doi: 10.1007/s00441-023-03824-z. Online ahead of print.ABSTRACTMen's reproductive health exclusively depends on the appropriate maturation of certain germ cells known as sperm. Certain illnesses, such as Klinefelter syndrome, cryptorchidism, and syndrome of androgen insensitivity or absence of testis maturation in men, resulting in the loss of germ cells and the removal of essential genes on the Y chromosome, can cause non-obstructive azoospermia. According to laboratory research, preserving, proliferating, differentiating, and transplanting spermatogonial stem cells or testicular tissue could...
Source: Cell Research - September 18, 2023 Category: Cytology Authors: Zahra Bashiri Mazaher Gholipourmalekabadi Farnaz Khadivi Maryam Salem Azita Afzali Tat-Chuan Cham Morteza Koruji Source Type: research
In vitro spermatogenesis in artificial testis: current knowledge and clinical implications for male infertility
AbstractMen ’s reproductive health exclusively depends on the appropriate maturation of certain germ cells known as sperm. Certain illnesses, such as Klinefelter syndrome, cryptorchidism, and syndrome of androgen insensitivity or absence of testis maturation in men, resulting in the loss of germ cells and the removal of essential genes on the Y chromosome, can cause non-obstructive azoospermia. According to laboratory research, preserving, proliferating, differentiating, and transplanting spermatogonial stem cells or testicular tissue could be future methods for preserving the fertility of children with cancer and men wi...
Source: Cell and Tissue Research - September 18, 2023 Category: Cytology Source Type: research
Follicle-stimulating hormone and Inhibin B as predictors of successful sperm retrieval in men undergoing testicular sperm extraction: A review of 44 cases and meta-analysis
Afr J Reprod Health. 2023 Jun;27(6):51-59. doi: 10.29063/ajrh2023/v27i6.6.ABSTRACTThe aim of the study and meta-analysis was to evaluate the predictive value of follicle-stimulating hormone (FSH) and inhibin B in sperm retrieval in men with non-obstructive azoospermia NOA. A total of 44 patients with a mean age of 36.1 years (SD=+/- 6.17) was included. We had 19 patients with successful sperm retrieval and 25 with failure. All patients had a normal karyotype. There was no difference between groups regarding patients mean age, prolactin or FSH. Patients with successful sperm retrieval had a significantly higher inhibin B le...
Source: African Journal of Reproductive Health - September 16, 2023 Category: African Health Authors: Drago ş Puia Adelina Miron Daniel Radavoi Viorel Jinga C ătălin Pricop Source Type: research
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia
In this study, we identified novel compound heterozygous MEIOB variants (c.814C > T: p.R272X and c.976G > A: p.A326T) and a previously undescribed homozygous non-canonical splicing variant of MEIOB (c.528 + 3A > C) in two NOA-affected individuals from two irrelevant Chinese families. MEIOB missense variant (p.A326T) significantly reduced protein abundance and nonsense variant (p.R272X) produced a truncated protein. Both of two variants impaired the MEIOB-SPATA22 interaction. The MEIOB non-canonical splicing variant resulted in whole Exon 6 skipping by minigene assay, which was predicted to produce a frameshift tru...
Source: Clinical Genetics - September 16, 2023 Category: Genetics & Stem Cells Authors: Xiaoyu Zhu Kaiqin Hu Huiru Cheng Huan Wu Kuokuo Li Yang Gao Mingrong Lv Chuan Xu Hao Geng Qunshan Shen Yunxia Cao Xiaojin He Dongdong Tang Rui Guo Source Type: research
