Search Results (47)

Background: Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and diabetes insipidus. Although it significantly affects quality of life, gonadal dysfunction, particularly hypogonadism, remains underrecognized. Methods: In total, 45 patients (25 men, 20 women) with genetically confirmed WFS from a single tertiary-care center were prospectively followed to assess gonadal function. Men underwent hormonal evaluations, semen analysis, imaging tests, and testicular biopsies. In women, data on age at menarche, menstrual irregularities, and age at menopause were recorded. Hormonal analyses, including anti-Müllerian hormone (AMH) levels, and imaging tests were also conducted. Results: Hypogonadism was identified in 19 men (76.0%), of whom 17 (68.0%) had hypergonadotropic hypogonadism and 2 (8.0%) had hypogonadotropic hypogonadism. Testicular biopsies showed seminiferous tubule damage, Sertoli cell predominance, and reduced Leydig cells. Azoospermia was observed in 12 patients, whereas others presented with oligozoospermia, teratozoospermia, or asthenozoospermia. Most patients exhibited low testosterone levels along with elevated LH and FSH, suggesting primary testicular failure, except for two cases of hypogonadotropic hypogonadism. Correlations between biomarkers, onset age and severity have been analyzed and provide important insights regarding medical treatment. In women, menstrual irregularities were universal, with 20% experiencing premature menopause. Four patients had low AMH levels, with ovarian atrophy in three and a postmenopausal uterus in two, indicating early hypogonadism risk. Conclusions: Gonadal dysfunction is a significant yet overlooked feature of WFS, requiring systematic evaluation during puberty and beyond. Proper management is essential to mitigate metabolic disturbances and psychological impacts, including infertility distress, relationship challenges, and quality of life concerns. Addressing sexual health is crucial as WFS patients live longer and aspire to establish relationships or start families. Full article

Background/Objectives: Erectile dysfunction (ED) is a prevalent condition worldwide that significantly affects men’s sexual health and overall quality of life. ED is often associated with both psychological and organic factors and may serve as an early indicator of underlying health conditions such as diabetes mellitus, hypertension, and cardiovascular diseases. This study aimed to assess the attitudes and help-seeking behaviors of patients with ED who attended primary healthcare centers for non-urological reasons. Methods: A cross-sectional survey was conducted among 384 men aged 18 years and older who attended primary care clinics. Erectile dysfunction was evaluated using a structured questionnaire designed to assess patients’ attitudes toward ED, help-seeking behaviors, and treatment preferences. Results: Approximately half of the participants (49.5%) acknowledged the necessity of seeking treatment. However, the majority (53.1%) had not consulted specialized clinics, primarily due to social stigma and a preference for self-medication. Concerning sources of information on ED treatment, 30.7% of participants relied on their partners and healthcare providers. Conclusions: The study underscores critical barriers to ED management, including social stigma and reliance on self-medication, which may impede optimal treatment engagement and access to specialized care. Full article

Background/Objectives: Urethral stricture disease, characterized by narrowing of the urethra due to scar tissue, affects urinary and sexual health. While urethroplasty is the standard treatment, its impact on erectile function is less understood. This study examines changes in International Index of Erectile Function (IIEF) scores post-urethroplasty across various stricture etiologies, identifies predictors of erectile function outcomes, and explores recovery trajectories following surgery. Methods: This multicenter retrospective study included 103 patients who underwent urethroplasty between 2017 and 2023. Preoperative and postoperative IIEF scores at 3 and 6 or 12 months were analyzed. Stricture etiologies included pelvic fracture urethral injury, transurethral resection, catheterization, idiopathic, and hypospadias. The Wilcoxon signed-rank test and multivariate regression models were used to assess changes in IIEF scores and identify significant predictors. Results: Preoperative erectile function and patient age were significant predictors of postoperative outcomes. Younger patients and those with higher baseline IIEF scores experienced better erectile function post-surgery. Long-term outcomes (6 to 12 months) were significantly worse for strictures involving both penile and bulbar regions. Multivariate analysis showed higher pre-surgery IIEF scores and younger age were associated with better outcomes both short-term (R² = 0.562) and long-term (R² = 0.507). Diabetes was associated with worse erectile function outcomes at 3 months post-surgery. Conclusions: Younger patients and those with higher baseline IIEF scores have better erectile function outcomes following urethroplasty. Complex strictures involving both penile and bulbar regions adversely affect long-term outcomes. Additionally, the presence of diabetes is correlated with diminished erectile function in the short-term postoperative period. Full article

Erectile dysfunction (ED) is a prevalent condition affecting male sexual health, characterized by the inability to achieve or maintain satisfactory erections. ED has a multifactorial pathogenesis in which psychological, hormonal, neurologic, cardiovascular, and lifestyle factors all contribute to a progressive decline of erectile function. A critical underlying mechanism involves oxidative stress (OS), an imbalance between reactive oxygen species (ROS) production and antioxidant defenses, which disrupts endothelial function, reduces nitric oxide (NO) bioavailability, and contributes to vascular dysfunction. This narrative review explores the interplay between OS and ED, focusing on the roles of ROS sources such as NADPH oxidase, xanthine oxidase, uncoupled nitric oxide synthase, and mitochondrial dysfunction. It examines the impact of OS on chronic conditions like hypertension, diabetes mellitus, hyperlipidemia, hypogonadism, and lifestyle factors like smoking and obesity, which exacerbate ED through endothelial and systemic effects. Emerging research underscores the potential of antioxidant therapies and lifestyle interventions to restore redox balance, improve endothelial function, and mitigate ED’s progression. This review also highlights gaps in understanding the molecular pathways linking ROS to ED, emphasizing the need for further research to develop targeted therapeutic strategies. Full article

Exposure to bisphenol A (BPA), one of the most widely produced plasticisers, can have a major effect on the growing embryo and the mother during pregnancy; as this is the most vulnerable period, the cutoff established in the legislation does not take this factor into account. Thus, this narrative review aims to highlight the consequences for the foetus and the pregnant woman of maternal and foetal exposure to BPA by analysing epidemiological and experimental studies on humans. Extensive research has examined the effects of BPA on several systems outcomes. Specifically, BPA exposure affects the immune system of the offspring and promotes the development of respiratory diseases, including asthma and wheezing. Moreover, BPA has been negatively associated with children’s neurodevelopment, leading to behavioural changes; autism; and reproductive changes, mainly deviations in anogenital distance, sexual hormone levels and sexual maturation, which can result in infertility. Furthermore, in mothers, BPA exposure may be linked to pre-eclampsia and gestational diabetes mellitus and affects birth parameters, leading to a higher risk of preterm delivery, shorter birth lengths and lower birth weights, although the results were not always consistent. These results demonstrate the urgent need for stricter legislation banning the use of BPA during pregnancy to reduce the hazards to the health and development of the foetus and the unborn child. Full article

Background: Sexual dysfunction (SD) in Parkinson’s Disease (PD) patients is a common and distressing concern, although it remains an underdiagnosed and undertreated condition. Indeed, the prevalence of SD in PD ranges from 42.6% to 79% in men and from 36% to 87.5% in women. PD-related SD etiology is multifactorial and includes biological, psychological, and socio-relational factors. In a previous multicenter study on 203 PD patients, we found that there was no gender difference in dysfunction severity, although men were significantly more affected by SD than women. Methods: This paper is a secondary analysis of this previous multicenter study, and aims to investigate the potential risk factors that contribute to SD. The relationship between dysfunction and the experimental factors was assessed using Generalized Linear Mixed-Effects (GLME) model. Results: The final analysis was conducted on a sample of 177 patients (76 women), after excluding individuals with incomplete data, non-compliance with inclusion criteria, or delays in assessment tool administration. The analysis, performed using the GLME model (R² = 0.68), revealed that gender (p = 0.01), age (p = 0.02), and depression status (HAMD) (p = 0.01) were significant predictors of SD. In contrast, other factors considered in the model, such as diabetes, and autonomic symptoms, did not significantly influence SD. Conclusions: This study demonstrates that age, gender, and depression are important predictors of SD in patients with PD. Although SD is a common NMS in PD patients, it is often neglected in clinical practice and the research on this hot topic is still poor. Then, a multidisciplinary approach, including nursing and coaching, is mandatory in order to improve sexual health in this patient population. Full article

Endocrine-disrupting compounds (EDCs) are emerging pollutants that can potentially accumulate in aquatic ecosystems at significant levels, with the potential to impact the health of both animals and humans. Many scientists have correlated human exposure to high concentrations of EDCs with critical physiological impacts, including infertility, thyroid imbalance, early sexual development, endometriosis, diabetes, and obesity. Several substances, such as heavy metals, belong to this family, ranging from natural to synthetic compounds, including pesticides, pharmaceuticals, and plastic-derived compounds. Domestic sewage represents a significant source of EDCs in the surrounding aquatic ecosystems. To this day, most rural and urban domestic wastewater in the municipality of Maricá is directly discharged into local aquatic environments without any treatment. The present study aimed to assess the potential contamination of the riverine and lagoonal environment in the municipality of Maricá. Water and sediment samples were collected seasonally at 18 sites along the Maricá watershed and the main lagoon, into which most of the watershed’s contributors flow. Water physico-chemical parameters (pH, reduction–oxidation potential—Eh, dissolved oxygen levels, salinity, turbidity, temperature, and fecal coliforms) were analyzed to characterize the urban influence on the aquatic environment. Sediment samples were also analyzed for grain size, total organic carbon percentage, potential bioavailable fraction of trace metals (Cd, Pb, Cu, Cr, Hg, Ni, Zn), and metalloid As. Finally, the sediment toxicity was assessed using yeast estrogen screen (YES) assays. The results obtained already demonstrate the presence of estrogenic effects and raise concerns about water quality. The current study indicates that, despite the absence of agricultural and industrial activities in the city of Maricá, EDCs are already present and have the potential to impact the local ecosystem, posing potential risks to human health. Full article

Erectile dysfunction (ED) is a pathophysiological condition in which the patients cannot achieve an erection during sexual activity, and it is often overlooked yet prevalent among diabetic men, globally affecting approximately 35–75% of diabetic individuals. The precise mechanisms through which diabetes contributes to ED remain elusive, but the existing literature suggests the potential involvement of nerve and vascular damage that affects the penile supply. In the present review, we reanalyze the existing human single-cell transcriptomic data from patients having diabetes mellitus-associated ED with normal erections. The analysis validates the expression of genes associated with antioxidative pathways, growth factors, adipokines, angiogenesis, vascular functions, penile erection, sexual function, and inflammation in diverse cell types from healthy individuals and those with ED. Our transcriptomic analysis reveals alterations in the expression of adiponectin receptors in the pathogenesis of ED compared to their counterparts in healthy subjects. This comprehensive review sheds light on the molecular underpinnings of ED in the context of diabetes, providing an in-depth understanding of the biological and cellular alterations involved and paving the way for possible targeted therapeutic discoveries in the field of diabetes-associated male infertility. Full article

Type 1 diabetes (T1D) severely impairs metabolic control and can lead to erectile dysfunction (ED) through hyperglycemia-induced vascular damage, autonomic neuropathy, and psychological distress. This review examines the role of continuous glucose monitoring (CGM) in ameliorating ED by addressing glucose variability and inflammation. A comprehensive analysis of studies and clinical trials was conducted to evaluate the impact of CGM on metabolic control, inflammatory responses, and vascular health in patients with T1D. Evidence suggests that CGM systems significantly stabilize blood glucose levels and reduce hyper- and hypoglycemic episodes that contribute to endothelial dysfunction and ED. CGM’s real-time feedback helps patients optimize metabolic control, improve vascular health, and reduce inflammation. CGM has the potential to redefine ED management in patients with T1D by improving glycemic control and reducing the physiological stressors that cause ED, potentially improving quality of life and sexual health. Further research is warranted to explore the specific benefits of CGM for ED management. Full article

Obesity and type 2 diabetes mellitus are global public health issues. Although males show higher obesity and insulin resistance prevalence, current treatments often neglect sex-specific differences. White adipose tissue (WAT) is crucial in preventing lipotoxicity and inflammation and has become a key therapeutic target. Rosiglitazone (RSG), a potent PPARγ agonist, promotes healthy WAT growth and mitochondrial function through MitoNEET modulation. Recent RSG-based strategies specifically target white adipocytes, avoiding side effects. Our aim was to investigate whether sex-specific differences in the insulin-sensitizing effects of RSG exist on WAT during obesity and inflammation. We used Wistar rats of both sexes fed a high-fat diet (HFD, 22.5% fat content) for 16 weeks. Two weeks before sacrifice, a group of HFD-fed rats received RSG treatment (4 mg/kg of body weight per day) within the diet. HFD male rats showed greater insulin resistance, inflammation, mitochondrial dysfunction, and dyslipidemia than females. RSG had more pronounced effects in males, significantly improving insulin sensitivity, fat storage, mitochondrial function, and lipid handling in WAT while reducing ectopic fat deposition and enhancing adiponectin signaling in the liver. Our study suggests a significant sexual dimorphism in the anti-diabetic effects of RSG on WAT, correlating with the severity of metabolic dysfunction. Full article

Introduction: Recurrent urinary tract infections (rUTIs) are highly prevalent health issues among women, significantly impacting their quality of life. Urethral pain or urethritis can arise from infectious or non-infectious origins. The presence of Human Papillomavirus (HPV) in the urogenital tract has been associated with high-risk sexual behaviors, but its presence in the female urethra without such behaviors has not been thoroughly investigated. Objectives: The study aims to determine the presence of HPV in the urethra of women with recurrent urinary tract infections (rUTIs) and concomitant urethral syndrome and to compare the clinical and microbiological characteristics of women with and without urethral HPV, specifically focusing on those without high-risk sexual behaviors. Methods: This prospective multicenter study included 138 women over 18 years old with rUTIs and concomitant urethral pain syndrome. High-risk sexual behaviors, sexually transmitted infections, and vaginitis were set as exclusion criteria. Participants were divided into two groups: NHPV (n = 72) with no urethral HPV and HPV (n = 66) with urethral HPV presence. Variables analyzed included age, body mass index (BMI), follow-up duration, comorbidities, treatments, toxic habits, surgical history, main symptoms, urine sediment findings, and cultures from urine and vaginal exudate. HPV genotyping was also performed. Descriptive statistics were used, along with Student’s t-test, Chi-square, Fisher’s exact test, ANOVA, and multivariate cluster analysis. Results: The NHPV group was older on average (48.75 years) compared to the HPV group (39.09 years). The HPV group had a longer follow-up period (2634 days vs. 1975 days in NHPV). Urinary incontinence was significantly more common in NHPV (63.89%) compared to HPV (18.18%) (p = 0.001). HPV-positive women had a higher prevalence of verrucous lesions in the vaginal introitus (64% vs. 8% in NHPV). Additionally, the HPV group showed higher rates of pyuria (27.27%), vaginal Candida albicans (36.26%), and positive urine cultures for Escherichia coli (47.83%), Enterococcus faecalis (36.36%), and Klebsiella pneumoniae (21.74%). No significant differences were observed between the groups concerning BMI, smoking habits, diabetes, or the main symptom at consultation. The most common HPV genotypes identified were G35, G42, and G66 (each 27%). Multivariate analysis revealed that sensitivity to nitrofurantoin was the most significant variable in the HPV group (importance of 0.96), followed by fosfomycin (0.79), trimethoprim (0.79), and amoxicillin (0.71). Conclusions: HPV was present in the urethra of 47.8% of women with rUTIs and concomitant urethral syndrome who did not exhibit high-risk sexual behaviors. These women were younger and had a longer duration of symptoms compared to those without urethral HPV. The identification of Enterococcus faecalis, Escherichia coli, and Klebsiella pneumoniae was more common in the HPV group. The sensitivity of bacteria to nitrofurantoin and fosfomycin is crucial for the clinical management of these patients. The presence of urethral HPV should be considered in the evaluation and treatment of women with rUTIs and urethral syndrome. Full article

Suboptimal nutrition is a leading cause of cardiometabolic disease and mortality. Biological sex is a variable that influences individual responses to dietary components and may modulate the impact of diet on metabolic health and disease risk. This review describes findings of studies reporting how biological sex may associate with or affect metabolic outcomes or disease risk in response to varying dietary macronutrient content, Mediterranean diet, Western diet, and medical very low-calorie diet. Although few dietary interventions have been specifically designed to identify sex–diet interactions, future studies improving understanding how sex influences dietary responses could inform precision nutrition interventions for disease prevention and management. Full article

Icariin (ICA), one of the main active components of Herba Epimedii, is a natural prenylated flavonol glycoside that possesses a wide range of pharmacological effects, including antioxidant, antiosteoporotic, anti-aging, neuroprotective, immunomodulatory, antitumor, and aphrodisiac effects, and prevents numerous health disorders, such as cardiovascular diseases, osteoporosis, cancer, sexual dysfunction, menstrual disorders, neurodegenerative diseases, asthma, chronic inflammation, and diabetes. In the reproductive system, it has been observed that ICA may play a role in preserving fertility by regulating different signalling pathways, such as PI3K/AKT, which improves ovarian function, and ERα/Nrf2, which enhances testicular function and prevents ROS generation. In contrast, regulating the NF/kB signalling pathway causes anti-inflammatory effects, reducing spontaneous abortions. In this study, we review and examine the relevant literature on the therapeutic potential of ICA in reproduction, highlight the various mechanisms of action and limitations for the therapeutic applications of ICA, and summarise and highlight the existing preclinical research on its effects on male and female reproduction. Full article

Erectile dysfunction (ED) is a prevalent condition affecting men’s sexual health, with oxidative stress (OS) having recently been identified as a significant contributing causative factor. This narrative review aims to elucidate the role of OS in the pathophysiology of ED, focusing on impact, mechanisms, and potential therapeutic interventions. Key findings indicate that OS disrupts endothelial function and nitric oxide (NO) signaling, crucial for erectile function. Various sources of reactive oxygen species (ROS) and their detrimental effects on penile tissue are discussed, including aging, diabetes mellitus, hypertension, hyperlipidemia, smoking, obesity, alcohol consumption, psychological stress, hyperhomocysteinemia, chronic kidney disease, and sickle cell disease. Major sources of ROS, such as NADPH oxidase, xanthine oxidase, uncoupled endothelial NO synthase (eNOS), and mitochondrial electron transport, are identified. NO is scavenged by these ROS, leading to endothelial dysfunction characterized by reduced NO availability, impaired vasodilation, increased vascular tone, and inflammation. This ultimately results in ED due to decreased blood flow to penile tissue and the inability to achieve or maintain an erection. Furthermore, ROS impact the transmission of nitrergic neurotransmitters by causing the death of nitrergic neurons and reducing the signaling of neuronal NO synthase (nNOS), exacerbating ED. Therapeutic approaches targeting OS, including antioxidants and lifestyle modifications, show promise in ameliorating ED symptoms. The review underscores the need for further research to develop effective treatments, emphasizing the interplay between OS and vascular health in ED. Integrating pharmacological and non-pharmacological strategies could enhance clinical outcomes for ED patients, advocating for OS management in ED treatment protocols to improve patient quality of life. Full article

Background and Objectives: Diabetes is a significant health problem, prompting the search for new therapeutic strategies. Recently, researchers have focused on identifying novel markers for the progression of this condition. It is well established that adipokines, such as progranulin and vaspin, play crucial roles in regulating lipid and carbohydrate metabolism. Materials and Methods: This single-center cross-sectional study aimed to assess serum progranulin and vaspin levels in 80 children diagnosed with type 1 diabetes (T1D) and to examine their correlation with body mass index (BMI), glycated hemoglobin, and lipid profile. The cohort included 40 children newly diagnosed with diabetes, 40 children with long-term diabetes (20 well-controlled and 20 poorly controlled), and 14 non-diabetic children as a control group. Progranulin and vaspin levels were determined using a sandwich enzyme-linked immunosorbent assay. Results: There were no significant differences in the progranulin and vaspin concentrations in the studied groups (p = 0.246 and p = 0.095, respectively). No statistically significant differences were noted in the levels of both adipokines among boys and girls within the T1D, well-controlled T1D, and poorly controlled T1D groups. We did not find any differences in the progranulin and vaspin levels among all children with T1D and healthy controls when divided based on BMI percentiles. A negative correlation was observed between progranulin concentration and the age of children in the T1D, well-controlled T1D, and healthy groups. Furthermore, progranulin correlated negatively with BMI among children with T1D. In contrast, vaspin concentration correlated positively with age among healthy children. Conclusions: Our study provides novel insights into the status of progranulin and vaspin among pediatric participants with varying levels of type 1 diabetes control. However, further research involving larger patient cohorts and different stages of sexual maturation is warranted. Full article