Objective: This study aimed to describe the clinical characteristics, reproductive function, and reproductive outcomes of men with a 47,XYY karyotype. Materials and Methods: This retrospective study was conducted at the Andrology and Fertility Hospital of Hanoi, Vietnam. The cohort included 22 men: 21 with non-mosaic 47,XYY and one with mosaic 46,XY/47,XYY. Data included semen analyses, reproductive hormone profiles, sexual function assessments using the International Index of Erectile Function and Premature Ejaculation Diagnostic Tool (PEDT), microdissection testicular sperm extraction and testicular histology findings, and reproductive outcomes after natural conception or assisted reproductive technology (ART). Results: The cohort comprised 21 men with non-mosaic 47,XYY and one with mosaic 46,XY/47,XYY. The mean age was 31.4 ± 4.0 years; the mean right and left testicular volumes were 9.86 ± 3.67 mL and 9.62 ± 3.50 mL, respectively. Small testes (<8 mL) were observed in 7/22 patients (31.8%), and varicocele was noted in 4/22 patients (18.2%), all in the non-mosaic group. Primary infertility was present in 18/22 patients (81.8%) with available fertility data. Erectile function was preserved in all patients, and 21/22 (95.5%) had PEDT scores ≤8. Among the 21 non-mosaic patients, 14 underwent in vitro fertilization with or without intracytoplasmic sperm injection (IVF/ICSI), resulting in nine live births after 19 embryo transfers; four also achieved spontaneous live births. The single mosaic patient had severe oligoasthenoteratozoospermia and achieved a live birth after one IVF/ICSI cycle and the first embryo transfer. Conclusion: Men with 47,XYY show heterogeneous reproductive phenotypes. Spermatogenic function substantially varies, whereas sexual function is usually preserved. ART, particularly IVF/ICSI, can result in favorable reproductive outcomes in this population.
Objective: The mechanisms underlying diminished ovarian reserve (DOR) remain incompletely understood. Although preliminary evidence suggests a link between sleep and ovarian function, comprehensive assessments using both objective and subjective sleep measures are needed. This study aimed to investigate the associations of sleep quality, assessed using both wearable-based objective measures and the Pittsburgh Sleep Quality Index (PSQI), with DOR among women of reproductive age. Methods: This cross-sectional study included 165 patients with DOR recruited from a tertiary hospital in Shanghai (March–December 2024) and 314 controls from two prior cohorts (August–November 2020 and November 2021–September 2022). Sleep quality was assessed using wearable devices and the PSQI. Multivariable logistic regression was used to examine associations between sleep parameters and DOR risk. Results: Both objective and subjective sleep quality were significantly worse among women with DOR, with shorter sleep duration, longer sleep latency, lower sleep efficiency, and greater sleep fragmentation (all P for trend < 0.05). After adjustment for potential confounders, wearable-derived sleep parameters showed robust associations with DOR: each unit increase in sleep latency (adjusted odds ratio [aOR], 1.043; 95% confidence interval [CI], 1.004–1.084) and sleep fragmentation (aOR, 1.081; 95% CI, 1.042–1.122), as well as each unit decrease in sleep duration (aOR, 0.284; 95% CI, 0.133–0.609) and sleep efficiency (aOR, 0.796; 95% CI, 0.666–0.951), was associated with a higher risk of DOR. Additionally, poor subjective sleep quality (PSQI > 5) was independently associated with DOR (aOR, 1.868; 95% CI, 1.025–3.044). Subgroup analyses stratified by age showed similar results. Conclusion: Compromised sleep quality, assessed using both wearable devices and the PSQI, was associated with an increased risk of DOR, highlighting the importance of recognizing sleep disturbances in reproductive health. Wearable devices show promise for objective, real-world sleep assessment and early risk identification in populations susceptible to DOR.
Preeclampsia (PE) is a severe pregnancy-specific disorder that endangers maternal and fetal health worldwide, particularly in low- and middle-income countries. This heterogeneous syndrome stems from abnormal placentation and manifests after 20 weeks of gestation. Its predominant clinical feature is new-onset hypertension, frequently accompanied by proteinuria or target organ dysfunction, such as liver or kidney dysfunction. PE pathogenesis is multifactorial, involving abnormal placental development, immune dysregulation, vascular dysfunction, and other contributing factors. Among these, oxidative stress plays a critical role, as placental ischemia and hypoxia lead to excessive generation of reactive oxygen species (ROS), overwhelming the body's antioxidant defenses and thereby triggering cell death. Notably, cell death plays an indispensable role in embryonic development and the maintenance of organismal homeostasis. Accordingly, this review summarizes evidence on redox-related cell death pathways in PE, including apoptosis, autophagy, necroptosis, pyroptosis, and ferroptosis, as well as the oxidative stress-associated signaling pathways involved in these processes. Based on published data, we suggest that molecular interplay among different redox-related modes of placental trophoblast cell death may occur in PE. Furthermore, the risk of PE is associated with the concentration of copper, an essential prenatal trace element, in the body. This observation has prompted the hypothesis that cuproptosis, a recently discovered form of copper-dependent cell death, may represent a potential mechanism underlying PE pathogenesis. Targeting cuproptosis or implementing combined interventions targeting multiple cell death pathways could provide novel therapeutic strategies for PE.
