Effect of paternal age on clinical outcomes of fertilization-embryo transfer cycles.

Purpose: This study aimed to investigate the impact of paternal age > 40 years on clinical pregnancy and perinatal outcomes among patients undergoing fertilization treatment.

Methods: We selected 75 male patients (aged > 40 years) based on predefined inclusion and exclusion criteria. Propensity score matching was performed in a 1:3 ratio, resulting in a control group (aged ≤ 40 years) of 225 individuals.

The deubiquitinase cofactor UAF1 interacts with USP1 and plays an essential role in spermiogenesis.

Spermiogenesis defines the final phase of male germ cell differentiation. While multiple deubiquitinating enzymes have been linked to spermiogenesis, the impacts of deubiquitination on spermiogenesis remain poorly characterized. Here, we investigated the function of UAF1 in mouse spermiogenesis.

MORN2 regulates the morphology and energy metabolism of mitochondria and is required for male fertility in mice.

Background: Mitochondria produce adenosine triphosphate through respiratory activities to power sperm differentiation and motility, and decreased mitochondrial respiratory activity can result in poor sperm motility and asthenospermia. The mitochondrial sheath is a component of the mid-piece of the sperm flagellum, and dysfunction of the sheath can reduce sperm motility and cause male infertility. The membrane occupation and recognition nexus-motif protein 2 (MORN2) is testis enriched in mice, and the MORN motif was reported to play a role in the regulation of bioelectrical signal homeostasis in cardiomyocytes.

OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADPKD. Reciprocal translocation is the most common chromosomal structural abnormalities and most of its carriers have normal phenotypes until they are encountered infertility problems in adulthood.

LSM14B is essential for oocyte meiotic maturation by regulating maternal mRNA storage and clearance.

Fully grown oocytes remain transcriptionally quiescent, yet many maternal mRNAs are synthesized and retained in growing oocytes. We now know that maternal mRNAs are stored in a structure called the mitochondria-associated ribonucleoprotein domain (MARDO). However, the components and functions of MARDO remain elusive.

Who can help me? Understanding the antecedent and consequence of medical information seeking behavior in the era of bigdata.

Introduction: The advent of bigdata era fundamentally transformed the nature of medical information seeking and the traditional binary medical relationship. Weaving stress coping theory and information processing theory, we developed an integrative perspective on information seeking behavior and explored the antecedent and consequence of such behavior.

Methods: Data were collected from 573 women suffering from infertility who was seeking assisted reproductive technology treatment in China.

TTC6-Mediated Stabilization of the Flagellum Annulus Ensures the Rapid and Directed Motion of Sperm.

Sperm motility and structural integrity are essential for successful fertilization in vivo, and any hindrance of the correct assembly of the axoneme and peri-axonemal structures in the sperm flagellum can lead to fertility problems. While there has been considerable advancement in studying diseases related to the flagellum, the underlying mechanisms that control sperm movement are not yet fully understood. In this study, we reveal that the tetratricopeptide repeat protein 6 () gene, expressed mainly in the testes, plays a crucial role in maintaining male fertility in mice.

Deficiency of the Gene Causes Male Infertility with Morphological Abnormalities of the Sperm Flagellum in Mice.

The axoneme and accessory structures of flagella are critical for sperm motility and male fertilization. Sperm production needs precise and highly ordered gene expression to initiate and sustain the many cellular processes that result in mature spermatozoa. Here, we identified a testis enriched gene transmembrane protein 232 (), which is essential for the structural integrity of the spermatozoa flagella axoneme.

The Slingshot phosphatase 2 is required for acrosome biogenesis during spermatogenesis in mice.

The acrosome is a membranous organelle positioned in the anterior portion of the sperm head and is essential for male fertility. Acrosome biogenesis requires the dynamic cytoskeletal shuttling of vesicles toward nascent acrosome which is regulated by a series of accessory proteins. However, much remains unknown about the molecular basis underlying this process.

SPIDR is required for homologous recombination during mammalian meiosis.

Meiotic recombinases RAD51 and DMC1 mediate strand exchange in the repair of DNA double-strand breaks (DSBs) by homologous recombination. This is a landmark event of meiosis that ensures genetic diversity in sexually reproducing organisms. However, the regulatory mechanism of DMC1/RAD51-ssDNA nucleoprotein filaments during homologous recombination in mammals has remained largely elusive.

Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles.

Objective: To investigate the role of tuberous sclerosis complex (TSC) genes, including TSC1 and TSC2, in the pathogenesis of human premature ovarian insufficiency (POI).

Design: Genetic and functional study.

Setting: University-based reproductive medical center.

Corrigendum: Mutations in associated with premature ovarian insufficiency in a Chinese population.

[This corrects the article DOI: 10.3389/fmed.2021.

The histone modification reader ZCWPW1 promotes double-strand break repair by regulating cross-talk of histone modifications and chromatin accessibility at meiotic hotspots.

Background: The PRDM9-dependent histone methylation H3K4me3 and H3K36me3 function in assuring accurate homologous recombination at recombination hotspots in mammals. Beyond histone methylation, H3 lysine 9 acetylation (H3K9ac) is also greatly enriched at recombination hotspots. Previous work has indicated the potential cross-talk between H3K4me3 and H3K9ac at recombination hotspots, but it is still unknown what molecular mechanisms mediate the cross-talk between the two histone modifications at hotspots or how the cross-talk regulates homologous recombination in meiosis.

Effects of donor sperm on perinatal and neonatal outcomes resulting from in vitro fertilization-intracytoplasmic sperm injection and embryo transfer cycles: a retrospective cohort study.

Background: The impact of donor sperm on pregnancy outcomes is controversial. The aim of this study was to investigate whether donor sperm in in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) treatment could reduce the rate of live births or increase the incidence of adverse pregnancy outcomes and birth defects in neonates.

Methods: This single-centre, retrospective cohort study included 1,559 patients with infertility who received donor sperm at our hospital from 2015 to 2019.

"Double Frozen Transfer" Could Influence the Perinatal and Children's Growth: A Nested Case-Control Study of 6705 Live Birth Cycles.

Objective: This study aims to evaluate neonatal and children growth outcomes of cryotransfer of embryos developed from frozen gametes [double frozen transfer (DFT)].

Methods: This nested case-control study included 6,705 women who had a singleton live birth after embryo transfer at the Center for Reproductive Medicine, Shandong University, from 2008 to 2020. Of these, 745 women underwent frozen embryo transfer (FET) using embryos developed from frozen gametes (DFT).

Pregnancy and Adverse Obstetric Outcomes After Hysteroscopic Resection: A Systematic Review and Meta-Analysis.

Objective: Although the randomized controlled trial (RCT) of the efficacy of hysteroscopic resection in women with uterine septum has not shown any significant correlation in recent research, motivation for deeper study remains insufficient. In this study, the objective was to determine pregnancy-related outcomes, along with adverse obstetric outcomes, following hysteroscopic resection and also to determine whether women with hysteroscopic resection bear the same outcomes as women with normal uterine cavities.

Search Methods: From January 1995 to February 2022, a systematic literature review was conducted to identify all studies published concerning the gestation outcomes of women with and without hysteroscopic resection while comparing the gestation outcomes of women after hysteroscopic resection and with a normal uterine cavity.

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in premenopausal women, whose etiology remains uncertain, although it is known to be highly heterogeneous and genetically complex. PCOS often presents with hyperandrogenism symptoms. The present study aimed to determine whether polymorphisms in the FK-506 binding protein 5 (FKBP5) gene (androgen target gene) are associated with an association for PCOS and hyperandrogenism.

Association of Polycystic Ovary Syndrome Phenotypes With Adverse Pregnancy Outcomes After Fertilization/Intracytoplasmic Sperm Injection.

Objective: This study aims to evaluate the association between polycystic ovary syndrome (PCOS) phenotypes and adverse perinatal outcomes, comparing the characteristics, ovarian response, and assisted reproductive outcomes in patients with various PCOS phenotypes after fertilization (IVF)/intracytoplasmic sperm injection (ICSI).

Methods: This study comprised 6,732 patients who underwent the first cycle of IVF/ICSI treatment in our outpatient department from January 2017 to July 2018. Propensity score matching (PSM) was used in PCOS and non-PCOS groups to balance the influence of intergroup confounding factors.

A decade of discovery: the stunning progress of premature ovarian insufficiency research in China.

Premature ovarian insufficiency (POI) is one of the key aspects of ovarian infertility. Due to early cession of ovarian function, POI imposes great challenges on the physiological and psychological health of women and becomes a common cause of female infertility. In the worldwide, there has been a special outpouring of concern for about 4 million reproductive-aged women suffering from POI in China.

Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.

The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome sequencing (WES) in members of a consanguineous family with two POI and two NOA patients to screen for potential pathogenic variants for familial POI and NOA. And a homozygous variant in SPATA22 (c.

Pathogenic Variations of Homologous Recombination Gene Identified in Sporadic Patients With Premature Ovarian Insufficiency.

Premature ovarian insufficiency (POI) is defined as depletion of ovarian function before 40 years of age, which affects 3.7% of women in reproductive age. The etiology of POI is heterogeneous.

Mutations in Associated With Premature Ovarian Insufficiency in a Chinese Population.

Premature ovarian insufficiency (POI) is one of the most common reproductive endocrinological causes of infertility in women of child-bearing age. The purpose of this study was to identify gene mutations in Chinese patients with POI and to investigate the underlying mechanism. A total of 113 patients with idiopathic POI and 100 healthy controls were recruited for the analysis of variants.