Search Results (1,283)

Thrombophilia is considered one of the key mechanisms underlying reproductive disorders. Clinical heterogeneity of reproductive disorders and a lack of stratification by phenotype often limit interpretation. Therefore, evaluating thrombophilia-associated genetic markers separately in fetal loss syndrome, postpartum hemorrhage (PPH), and hypertensive disorders of pregnancy is essential. Background/Objectives: To assess the frequency of thrombophilia-related genetic polymorphisms in women with various reproductive disorders and evaluate their association with clinical–anamnestic characteristics and obstetric antiphospholipid syndrome. Methods: A total of 132 women with reproductive disorders (fetal loss syndrome, postpartum hemorrhage, preeclampsia). Results: Statistically significant differences were found when comparing between the groups. Thus, heterozygous F13 genetic polymorphisms were statistically more common in the group with a history of preeclampsia compared to the group with PPH (the G/A genotype was detected in 22.2% versus 10.7%, p = 0.045), and heterozygous ITGA2 gene genetic polymorphisms were also more common (the C/T genotype was detected in 66.7% versus 42.9%, p = 0.023). In women with a history of PPH, homozygous ITGA2 genetic polymorphisms were statistically more common (the T/T genotype was detected 2.6 times more often—21.4% versus 8.8% compared to the group with fetal loss syndrome, p = 0.022; and 3.8 times more often—21.4% versus 5.6% compared to the group with PE, p = 0.022). Conclusions: A study of thrombophilia gene polymorphisms in women with reproductive disorders showed that the G/A genotype of F13, the C/T genotype of ITGA2, and the A/G genotype of MTR:2756 were significantly more common in women with preeclampsia than in the group with postpartum hemorrhage; the T/T genotype of the ITGA2 gene was detected in postpartum hemorrhage. The MTHFR 1286A > C (A/C) polymorphism was associated with a reduced risk of postpartum hemorrhage. In contrast, the MTR 2756A > G (A/G) genotype was associated with an increased risk of preeclampsia. Full article

Background: Quantitative assessment of proprioception in children with Developmental Coordination Disorder (DCD) is limited by methodological variability and the lack of developmentally appropriate protocols. Joint position sense (JPS) and force sense (FS) assessments are commonly used in adults; however, their reliability in pediatric populations has not been sufficiently established. The objective of this study was to evaluate the intra- and inter-rater reliability of adapted JPS and FS protocols in children with DCD and to determine whether the observed reliability supports the use of these methods in experimental research. Methods: A repeated-measurements reliability research design was employed. Twenty-eight children aged 10–15 years (mean age 12.86 years), with a mean body mass of 43.68 kg and a mean height of 149.32 cm, and with medically confirmed DCD, completed four proprioceptive tests: joint angle reproduction and differentiation, and force reproduction and differentiation. Absolute errors were calculated for each trial. Reliability was assessed using intraclass correlation coefficients (ICC2,k), standard error of measurement, and smallest detectable difference. Bland–Altman plots were used to evaluate agreement. Results: Reliability across all tests and movement directions ranged from good to excellent. Most ICC values exceeded 0.90, with only a small number falling between 0.86 and 0.90. Although differentiation tasks produced larger absolute errors than reproduction tasks, their reliability remained excellent. Bland–Altman analyses demonstrated acceptable bias, reasonable clustering around the mean difference, and only occasional outliers beyond the limits of agreement. Conclusions: The adapted JPS and FS protocols demonstrated high intra- and inter-rater reliability in children with DCD, supporting their use in experimental research. Full article

The Transforming Growth Factor-β (TGF-β) superfamily comprises highly conserved cytokines that orchestrate key cellular functions, including proliferation, differentiation, and apoptosis. Within the ovary, TGF-β family members serve as pivotal regulators of folliculogenesis, exerting stage-specific actions from embryonic germ cell development to advanced follicular maturation. During fetal development, activins and SMAD-dependent signaling pathways are essential for primordial germ cell proliferation, survival, and the breakdown of germ cell cysts, enabling the establishment of the primordial follicle pool. Throughout folliculogenesis, TGF-β supports follicle activation, promotes the transition from dormant to growing follicles, stimulates granulosa cell proliferation, sustains follicular viability, and modulates steroidogenesis through theca cell regulation. Notably, anti-müllerian hormone, a TGF-β family member, plays a central role in inhibiting premature follicle recruitment and serves as a key biomarker of ovarian reserve. Dysregulation of TGF-β signaling contributes to various ovarian disorders, including polycystic ovary syndrome and premature ovarian insufficiency. A deeper understanding of these complex signaling networks is critical for identifying novel therapeutic targets and advancing clinical interventions in female reproductive pathologies. This review provides an integrated overview of the roles of the TGF-β superfamily in ovarian physiology and its contributions to disease development. Full article

Obstructive sleep apnea (OSA) is a highly prevalent disorder with far-reaching systemic consequences. While its cardiometabolic and neurocognitive impacts are well established, growing evidence highlights OSA as a contributor to infertility in both men and women. The pathophysiological mechanisms include intermittent hypoxia, oxidative stress, systemic inflammation, and endocrine disruption, all of which can impair spermatogenesis, reduce semen quality, alter gonadal hormone secretion, and compromise ovarian function. Clinical studies consistently demonstrate associations between OSA and impaired semen parameters, reduced testosterone, and erectile dysfunction in men. In women, OSA is frequently observed in those with polycystic ovary syndrome, is associated with ovulatory dysfunction, and negatively affects in vitro fertilization outcomes, pregnancy rates, and miscarriage risk. Despite these findings, infertility is not systematically included in global burden estimates of OSA, leading to the underestimation of its true health and socioeconomic impact. Therapeutic strategies such as weight loss, continuous positive airway pressure, and integrative approaches show promise, though robust evidence from randomized trials is still lacking. Integrating sleep health into reproductive medicine may provide a cost-effective and equitable pathway to improve fertility outcomes worldwide. Full article

The primary objective of this study was to develop and optimize a colorimetric reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay for porcine abortion-associated pestivirus (PAAPeV)—an emerging pathogen that causes severe reproductive disorders in swine, for which no effective treatments or vaccines are currently available. In this study, four sets of LAMP primers were designed and screened for the colorimetric RT-LAMP assay, targeting the highly conserved 5′ untranslated region (5′UTR) of PAAPeV. Three reaction parameters, including reaction temperature, reaction duration, and inner-to-outer primer ratio, were then optimized based on cycle threshold (Ct) values, fluorescence intensity, and color changes of the endpoint products. Subsequently, the specificity and sensitivity of the optimized colordetect RT-LAMP assay were systematically validated, and its diagnostic performance was compared with that of the gold-standard reverse transcription quantitative polymerase chain reaction (RT-qPCR). The results demonstrated that the optimized assay achieved a detection limit of 2 copies/μL under the conditions of 65 °C incubation for 25 min and an inner-to-outer primer ratio of 8:1, with results amenable to naked-eye interpretation. Furthermore, this assay exhibited high specificity, showing no cross-reactivity with other known pestiviruses or prevalent swine pathogens. Clinical sample testing results showed 100% concordance between colordetect RT-LAMP and RT-qPCR. Collectively, this colordetect RT-LAMP assay represents a rapid, sensitive, and specific tool for PAAPeV RNA detection in both clinical laboratories and field settings. Full article

Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options. Full article

Male infertility is a prevalent global health issue, with urological disorders representing some of the most common and correctable causes. Key conditions such as varicocele, obstructive azoospermia, erectile dysfunction and Peyronie’s disease impair fertility through distinct pathophysiological mechanisms, including disrupted spermatogenesis, reproductive tract obstruction and failed sperm delivery. The effective management of these conditions hinges on a systematic diagnostic evaluation, which integrates clinical history, physical examination, semen analysis and specialized imaging. Modern management follows a logical progression, beginning with foundational lifestyle modifications, advancing to targeted medical or surgical interventions, and culminating, when necessary, in assisted reproductive technologies. Treatment strategies are therefore highly targeted, ranging from medical management and surgical correction—such as varicocelectomy or microsurgical reconstruction—to sperm retrieval techniques. Furthermore, evidence-based lifestyle modifications and a multidisciplinary clinical approach are fundamental to optimizing reproductive outcomes for affected couples. A comprehensive understanding of these urological etiologies is therefore essential for guiding appropriate intervention and improving the prospects of achieving pregnancy. Full article

Expanded carrier screening (ECS) has emerged as a cornerstone of reproductive genetics, enabling the identification of couples at risk of transmitting autosomal recessive and X-linked disorders. Advances in next-generation sequencing and the increasing adoption of exome- and genome-based strategies have greatly expanded its clinical scope. However, despite existing national and international recommendations, substantial heterogeneity remains in gene panel composition, inclusion criteria, and interpretation frameworks. A key novelty of the current genomic era is the availability of large, publicly accessible human genome datasets encompassing broader ancestral diversity. These resources are transforming our understanding of variant frequencies and disease penetrance across populations, supporting the development of evidence-based and ancestry-informed gene panels. In parallel, recent studies investigating the genetic contribution of pathogenic variants to euploid pregnancy losses are opening new perspectives for ECS. Incorporating genes associated with lethal conditions in utero may enhance the predictive power of screening and deepen our understanding of reproductive outcomes, while also demanding careful consideration of clinical validity and counseling implications. This mini-review synthesizes current evidence on ECS, examines ongoing interpretive and implementation challenges, and discusses how population-scale genomic resources and emerging data on reproductive lethality are shaping the next generation of evidence-based carrier screening. Full article

Endocrine disruptors, including bisphenol A, S, AF, and F, have been demonstrated to exhibit endocrine-disrupting activity. This phenomenon has been associated with a variety of health problems, including (but not limited to) neurological and reproductive disorders. Given the potential hazards, it is essential to have effective tools to assess their toxicity. The nematode Caenorhabditis elegans has become a widely used model organism for studying bisphenols because of its genetic simplicity and the conservation of its fundamental biological processes. This review article summarizes current knowledge of bisphenol toxicity and the use of the model organism C. elegans as a high-throughput system for investigating the toxicological profiles of BPA and its emerging alternatives. Furthermore, we highlight the specific methodologies for assessing the toxic effects of bisphenols in C. elegans. While highlighting its advantages, we critically discuss its limitations, including the absence of specific metabolic organs, which constrain direct extrapolation to mammalian systems. Based on available evidence, we conclude that C. elegans serves as an essential bridge between in vitro assays and mammalian models, offering a powerful platform for the early hazard identification and mechanistic screening of bisphenol analogues. Full article

Endometriosis is a chronic, oestrogen-dependent inflammatory condition affecting approximately 10% of women of reproductive age, frequently associated with chronic pelvic pain, dysmenorrhoea and infertility, substantially impairing quality of life. While pharmacological and surgical therapies represent the standard of care, growing evidence indicates that lifestyle and dietary factors play an important complementary role in symptom management and may influence disease progression. Regular physical activity appears to attenuate systemic inflammation, improve hormonal regulation and support psychological well-being. Dietary patterns rich in anti-inflammatory components, particularly Mediterranean-diets and low-inflammatory diets, have been associated with reduced pain and improved gastrointestinal symptoms, whereas high consumption of red and processed meats may increase disease risk. Micronutrients and selected supplements, including vitamins C, E and D, magnesium, zinc, folate, omega-3 fatty acids, N-acetylcysteine, curcumin, probiotics and green tea polyphenols, show promising but variable evidence for symptom relief. Additional lifestyle factors, such as avoiding endocrine-disrupting chemicals, moderating alcohol intake, ensuring adequate sleep and managing psychological stress, may further modulate inflammatory and hormonal pathways relevant to the disorder. Overall, current evidence indicates that integrating lifestyle interventions alongside conventional treatments offers clinically relevant benefits, although larger, well-designed clinical studies are needed to clarify the magnitude of these effects and to explore further promising lifestyle-based therapeutic approaches. Full article

Background: Testicular dysgenesis syndrome (TDS) is a complex disorder of the male reproductive system related to disfunction of the fetal testis. The clinical features of TDS may be evident at birth or infancy (cryptorchidism, hypospadias and/or reduced anogenital distance) or occur later in adulthood (testis cancer, infertility). Genetic background seems to be important for genetic predisposition, with new genes being associated with components of the syndrome in last years. Interestingly, the incidence of clinical manifestations of TDS has been increasing in many countries in recent decades, suggesting that genetic predisposition alone cannot explain this trend. Consequently, the hypothesis of multifactorial etiopathogenesis is becoming increasingly accepted nowadays, with environmental factors probably acting during early developmental stages in genetically predisposed individuals. Methods: In this narrative review, we aim to critically evaluate genetic and non-genetic factors involved in the pathogenesis of TDs. Results: Important associations with intrauterine growth disorders and maternal diseases (overweight/obesity and diabetes) as well as lifestyle factors (e.g., smoking and alcohol abuse) were found. In such context, endocrine disruptors probably play a major role. These substances are widely used in industry and can exert estrogenic and antiandrogenic effects, potentially interfering with the development of the fetal gonad. Conclusions: Considering their possible impact on male sexual health, more attention should be focused on maternal modifiable factors to confirm with prospective studies the mixed results of available evidence. Full article

Dystocia represents a multifactorial and clinically significant reproductive disorder affecting a broad spectrum of reptilian species. Commonly resulting from prolonged vitellogenesis, endocrine disruption, or hepatic lipidosis, dystocia is often exacerbated by suboptimal husbandry or concurrent disease. This review critically evaluates the etiology, diagnostic criteria, and therapeutic interventions associated with this condition. Emphasis is placed on the interplay between metabolic exhaustion and hepatic compromise, which may lower the threshold for surgical intervention. The efficacy and limitations of oxytocin-based protocols are discussed in the context of hormonal receptor variability and response attenuation. Advanced diagnostic modalities, including ultrasonography, radiography/CT, and biochemical profiling, are reviewed for their utility in case stratification. Finally, surgical management options are considered for cases refractory to medical treatment, with attention paid to timing, anesthetic risk, and post-operative care. Collectively, this synthesis aims to inform evidence-based clinical decision-making and promote improved standards of care in reptile reproductive medicine. Full article

Vitamin D is well established for its skeletal effects, being a cornerstone of several endocrine disorders. In recent years, it has come under investigation as a potential disease-modifying drug in several endocrine disorders through its immune modulatory and anti-tumorigenic action, particularly in thyroid disease, gynecologic disorders, and general fertility. Vitamin D supplementation is well established in the treatment of osteoporosis, osteomalacia, hypoparathyroidism, and primary hyperparathyroidism. In autoimmune thyroid disease, there is a negative correlation between 25(OH)D3 levels and prevalence. Currently available data are inconclusive on supplementation as a disease-modifying treatment. In Hashimoto’s thyroiditis, while some found improved thyroid function, a decline in progression, and antibody titers, these findings were not consistent, and some found no improvements. Painless postpartum thyroiditis severely lacks evidence. Interventional studies failed to demonstrate benefits in Graves’ disease. The literature consistently reports lower vitamin D levels in infertility, polycystic ovarian syndrome (PCOS), and endometriosis. In PCOS, data suggest that vitamin D supplementation is beneficial; however, results in exact benefits vary and there is no consensus on dosing. Current guidelines support supplementation as part of preconception nutritional care. In general, for female infertility and endometriosis, the results are conflicting, with a lack of high-quality evidence. The literature suggests there is a possible benefit regarding sperm motility, but not in testosterone levels for males. In conclusion, while in vitro studies and animal models are promising, the available evidence is often contradictory, with high heterogeneity in study designs and populations. Our paper highlights the need for further high-quality research to resolve current controversies. Full article

From an immunological perspective, infertility mechanisms encompass not only fertilization but also implantation, as well as both early and late pregnancy loss. Growing attention is being directed towards the influence of systemic disorders on reproductive outcomes. The immune system plays a fundamental and regulatory role in human reproduction. Immunological factors may affect multiple stages of this process, potentially justifying their inclusion in extended diagnostic pathways. The impact of autoimmunity and the presence of various antibodies on reproductive functions is discussed. Special attention is given to the immunomodulatory role of progesterone in reproduction and a state of impaired progesterone action—luteal deficiency. Endometriosis is also highlighted as a disorder both associated with infertility and underpinned by a strong immunological basis. The usefulness of assessing lymphocyte subpopulation balance, cytokine profiles, and Th1/Th2 immune response in the diagnostic work-up of infertility is addressed. Furthermore, the prospect for a role of local and systemic infections, subclinical inflammation and microbial colonization is shown. Tests applied in the evaluation of implantation and placental development disorders are discussed. Adequate immunological diagnostics and accurate identification of the underlying causes of infertility facilitate effective therapeutic strategies and can substantially increase the likelihood of achieving a successful pregnancy. Full article

Male reproductive disorders and declining fertility rates play an important role in birth rates, and their impact on future populations makes them one of the most serious public health issues of this century. Defects in spermatogenesis are the most common manifestation of male infertility, and exposure to environmental pollutants has been suggested as a potential cause. Nanomaterials, due to their unique physicochemical properties and widespread application, have raised growing concerns about their potential reproductive toxicity. Studies have shown that nickel nanoparticles (Ni NPs) have reproductive toxicity in male rats and mice, especially sperm damage. This study aimed to explore the male reproductive toxicity of Ni NPs and the role of mitochondrial fission in mouse spermatocytes (GC-2). Our results showed that Ni NPs induced the damage of mitochondrial structure and function in GC-2 cells and disrupted intramitochondrial homeostasis, thereby resulting in enhanced Dynamin-related protein 1(Drp1)-mediated mitochondrial fission and cell apoptosis, along with aggravated cytotoxicity and obvious reproductive toxicity. The mitochondrial division inhibitor 1(Mdivi-1) and lentiviral-transfected low expression of Dnm1l can significantly alleviate the germ cell toxicity caused by Ni NPs, suggesting a certain therapeutic effect. The novelty of this study lies in its systematic demonstration that Drp1-mediated mitochondrial division is a core pathogenic mechanism of Ni NP-induced male reproductive toxicity, and the validation of both pharmacological inhibition and genetic silencing as effective intervention strategies. Therefore, this study offers a reference for expanding the reproductive toxicity effect of Ni NPs and potential molecular mechanisms and provides an important basis for finding potential targets and treatment of Ni NPs. Full article