Gynecological Endocrinology最新文献

Polycystic ovarian syndrome (PCOS) is a major endocrine disorder that affects women of reproductive age. This study evaluated global disease burden trends (1990-2021) and projected future trajectories to 2050 to inform public health strategies. Using Global Burden of Disease 2021 data, we analyzed PCOS prevalence, incidence, and disability-adjusted life years (DALYs) and correlations with the sociodemographic index (SDI). Trends were assessed via the estimated annual percentage change, and future burden was projected using a Bayesian age-period-cohort model. From 1990 to 2021, global PCOS prevalence among reproductive - age women rose 89.55% to 69.47 million. Incident cases increased 55.90% to 2.30 million, and DALYs surged 87.70% to 607.76 thousand. Regions with rising SDI, particularly South, East, and Southeast Asia, saw the steepest increases in age-standardized rates. The incidence rose most sharply in the 10-19 age group, while the prevalence and DALYs peaked in the 15-49 age group. Projections indicate a continued increase in PCOS burden until 2050. PCOS poses a serious public health challenge, particularly in the medium-SDI regions. This escalating burden underscores the need for targeted interventions, particularly for adolescents and young women, to mitigate its long-term health impacts. Policymakers and clinicians must prioritize PCOS management to address its increasing global prevalence and associated disabilities.

Objectives: Premature ovarian insufficiency (POI) is a serious condition that affects women worldwide, In recent years, the number of research publications on POI has increased over the last decades because of the advancement of cutting-edge research in gynecology and the deepening of disciplinary interactions. At the same time, there is a more urgent need to systematically analyze and review existing studies to generalize the research paradigm and disciplinary structure of the field under technological changes.

Materials and methods: We selected the top 100 most cited papers in the Web of Science (WOS) SCI-Expanded database. Knowledge graphs were constructed through the VOS viewer, Cite Space, and Scimago Graphica software, and then relevant information retrieved from the literature was edited using Excel to assess research priorities and trends in the field.

Results: A total of 53 periodicals from 34 different nations and regions published the 100 most-cited publications between 1999 and 2024. The Journal of Clinical Endocrinology & Metabolism published the majority of the papers, while The Lancet had the highest average number of citations per piece. The United States of America produced the highest contribution in terms of publications, with China and France closely trailing after. In terms of total publications, Erasmus MC, Shanghai Jiao Tong University, and Shandong University each contributed the highest number of papers. The main categories were obstetrics and gynecology, endocrinology and metabolism, and reproductive biology. The top five keywords were: failure, women, ANTI-MULLERIAN HORMONE, NATURAL MENOPAUSE, and AGE. The study of HERITAGE AND GENETICS, CARDIOVASCULAR DISEASES, and CELL BIOLOGY AND IMMUNOGENETICS is becoming more and more popular in POI, as shown by cluster analysis.

Conclusions: Bibliometric analysis enables POI researchers to efficiently and visibly pinpoint the cutting-edge areas and focal points of their study. Potential topics of future study may include genetic and molecular biological pathways, cardiovascular pathology, and immunology.

Objective: Sex hormone-binding globulin (SHBG) is suggested to be a biomarker for metabolic disturbances in women with polycystic ovary syndrome (PCOS). Insulin resistance and hyperinsulinemia is common in PCOS patients. Low SHBG increases free testosterone levels, which further induces hyperinsulinemia. There is no established cutoff level for SHBG in PCOS patients. The goal of this study is to examine SHBG as a biomarker for metabolic dysregulation in European women with PCOS in relation to hyperandrogenemia.

Methods: Retrospective data was collected from the outpatient clinic for menstrual cycle disorders at Maastricht University Medical Center+. 208 women were included, aged between 18 and 40 years old. During a one-time visit to the clinic, physical examination and vaginal ultrasound evaluation were performed as well as endocrine evaluation performed after overnight fast. The women were diagnosed with PCOS according to the European Society of Human Reproduction and Embryology (ESHRE) 2018 guideline.

Results: BMI was inversely associated with SHBG (β -0.598, 95% CI [-0.710 to -0.485]) and waist circumference (β -0.604, [-0.715 to -0.492]), even after correction for HOMA-IR and testosterone. A cutoff level <40 nmol/L was significantly, and unfavorably, associated with all metabolic outcomes. Its AUROC was optimal for waist circumference (sensitivity 0.75, specificity 0.82).

Conclusions: SHBG levels <40 nmol/L are indicative for metabolic dysregulation in European women with PCOS. Waist circumference is an important predictor for SHBG, comparable to BMI. Visceral adiposity might play an important role in the expression of SHBG and etiology of PCOS.

Objective: To compare the efficacy of oral and transdermal estrogens in improving the quality of life in perimenopausal and recently postmenopausal women.

Methods: 257 women aged 40-55 years, within three years after their final menstrual period were randomized to receive transdermal oestrogel (t-E2) (n = 128) or oral estradiol valerate (o- E2V) (n = 129; both with micronized progesterone 200 mg for 14 days each month). Menopausal symptoms were recorded at screening and at 4, 12, and 24 weeks post-randomization. Menopausal symptoms were evaluated using the Menopause-Specific Quality of Life (MENQOL) questionnaire.

Results: Significant improvements of MENQOL scores were observed in both groups compared with baseline. The decrease of MENQOL scores after treatment showed almost no difference between the two groups (p > 0.05) except the VMS domain which indicated a better result in oral estrogen group after 24 weeks.

Conclusions: This study showed that both transdermal and oral estrogens were highly effective in relieving the overall menopausal symptoms for recently-menopausal women, with little difference in treatment efficacy between the two routes.

Polycystic Ovary Syndrome (PCOS) is a common reproductive and metabolic disorder causing infertility in women of childbearing age.Circular RNAs are known to be involved in PCOS development, but their regulatory mechanisms remain unclear. This study explored the role of circ_BMPR2 in PCOS to advance early diagnosis and treatment.It found elevated circ_BMPR2 expression in ovarian granulosa cells of PCOS patients. Knocking down of circ_BMPR2 inhibited proliferation and promoted apoptosis in KGN cell. Mechanistically, we confirmed that circ_BMPR2 acts as a sponge to bind miR-619-5p, which could specifically target Rab43 gene.PCOS tissues showed upregulated Rab43, and silencing circ_BMPR2 reduced Rab43 levels, rescued by a miR-619-5p inhibitor. Further experiments confirmed that overexpression of Rab43 reversed the effects of circ_BMPR2 knockdown on cell proliferation and apoptosis in KGN cells. Thus,our findings implicate circ_BMPR2 acts as a key player in PCOS process, by modulating growth and cell cycle progression of GCs through regulating the miR-619-5p/Rab43 axis. This suggests that circ_BMPR2 could be a prospective biomarker for the early diagnosis of PCOS. By understanding its molecular mechanisms, we can pave the way for more effective interventions to treat this complex disease.

Subclinical hypothyroidism (SCH) during pregnancy is a common endocrine disorder, and miR-142-3p has been widely reported to be involved in thyroid function and pregnancy-related diseases. This study aimed to investigate the expression of miR-142-3p in SCH patients during the second trimester of pregnancy and clarify its clinical significance. A total of 135 healthy individuals and 161 SCH patients were included in the study. The expression level of miR-142-3p was detected by RT-qPCR, and its diagnostic efficacy was evaluated by ROC curve. Pearson correlation analysis was used to explore the correlation, and multivariate logistic regression analysis was performed to determine the potential risk factors for SCH. The results showed that the expression level of miR-142-3p was significantly increased in SCH patients and had a high diagnostic value. This indicator was positively correlated with thyroid peroxidase antibody (TPOAb) and thyroid stimulating hormone (TSH) levels, and was a risk factor for SCH during pregnancy. In addition, both SCH and abnormally elevated miR-142-3p were associated with adverse pregnancy outcomes, especially depression and preterm birth. In conclusion, the increase in miR-142-3p has a high diagnostic value in differentiating SCH patients from healthy individuals, is a risk factor for SCH, and is associated with adverse pregnancy outcomes (such as depression and preterm birth).

Objective: To expand the clinical phenotype associated with MYRF mutations in disorders of sex development (DSDs).

Methods: We present a case of a 17-year-old patient with a female phenotype who presented with primary amenorrhea.

Results: The patient's external genitalia was entirely female in appearance, though there was no opening of vagina below the orifice of urethra. The karyotype was determined to be 46, XX. Hormonal analysis showed ovarian function failure. Pelvic ultrasound and MRI revealed the absence of visible uterus, cervix, vagina, and bilateral ovaries. Although MRKH syndrome combined with 46, XX pure gonadal dysgenesis was initially suspected, subsequent whole exome sequencing identified a novel heterozygous variation c.1468C > G in the MYRF gene. Further investigations revealed only hypoplasia of Mullerian derivatives and ovaries, along with a malformation of left kidney duplication, as evidence of MYRF deficiency as part of the cardiac-urogenital-diaphragm-lung (CUDL) syndrome.

Conclusion: This case report describes a patient with MYRF-associated 46, XX DSDs, exhibiting atypical or subtle phenotypic features without significant cardiac, pulmonary, or diaphragmatic abnormalities, but with urogenital anomalies including absent uterus, vagina, and ovaries, and left kidney duplication malformation. This expands the clinical phenotype associated with MYRF mutations and identifies MYRF as a novel pathogenic gene for 46, XX DSDs.

Background: Primary Ovarian Insufficiency (POI) impacts 3.5% of women under 40, with its etiology largely unknown. Piwi-interacting RNAs (piRNAs) have emerged as potential biomarkers for gynecological conditions, including POI. We hypothesized that hsa-piR-775 plays a critical role in POI pathogenesis by regulating FOXG1 expression.

Methods: We performed piRNA sequencing on serum samples from POI patients and controls using the Illumina sequencing platform. Bioinformatics analysis for target prediction was conducted using TargetScan and miRanda to identify potential downstream targets of differentially expressed piRNAs (DEPs). qPCR and luciferase reporter assays for in vitro validation to explore the function and targets of DEPs, with a focus on hsa-piR-775.

Results: Among 43 DEPs, hsa-piR-775 was notably upregulated in POI patients. Target gene prediction and enrichment analysis implicated FOXG1, a gene associated with ovarian function, as a potential target of hsa-piR-775. In vitro validation confirmed hsa-piR-775 can influence FOXG1 mRNA, reducing FOXG1 expression. These findings suggest hsa-piR-775 influences POI progression by modulating FOXG1 levels.

Conclusion: We demonstrate that hsa-piR-775 is upregulated in POI and regulates FOXG1 expression, revealing a novel pathogenic mechanism. This supports piRNAs' potential as biomarkers and therapeutic targets in POI. Future studies should focus on validating these findings in larger cohorts and exploring piRNA-based therapeutic interventions for POI.

Unexplained recurrent pregnant loss (URPL) is associated with immune imbalance at the maternal-fetal interface. Decidual immune cells regulate the response of the maternal immune system to the fetus. However, the effect of decidual stromal cells (DSCs) and trophoblast cells on cytokine secretion by decidual NK cells remains unclear. In this study, we investigated the influence of JEG-3 cells and DSCs on the secretion of cytokines in dNK cells. Furthermore, we investigated whether or not cytokine secretion was regulated by the mitogen-activated protein kinase (MAPK) signaling pathway at the maternal-fetal interface. Our study showed that the secretions of both IFN-γ and TNF-α in dNK cells in URPL were significantly higher than those in normal pregnancy. In the coculture of JEG-3, DSCs, and dNK cells, IL-10 and IL-4 production increased in dNK cells during normal pregnancy; whereas IFN-γ and TNF-α production increased but IL-10 and IL-4 levels decreased during URPL. Furthermore, pretreatment with P38/MAPK inhibition significantly inhibited the secretion of NK1- and NK2-type cytokines in the coculture of the three types of cells. Our study elucidated the influence of trophoblasts and DSCs on the expression of cytokines in dNK cells in patients with URPL and uncovered a complicated crosstalk through the MAPK signal at the maternal-fetal interface.