International Journal of Women's Health最新文献

{"title":"Patient Selection for the Use of Niraparib in Advanced Ovarian Cancer: A Review.","authors":"Anna Gonzalez, Quinn Kistenfeger, Casey M Cosgrove","doi":"10.2147/IJWH.S466250","DOIUrl":"10.2147/IJWH.S466250","url":null,"abstract":"<p><p>The advent of poly(ADP-ribose) polymerase (PARP) inhibitors has resulted in a significant paradigm shift in ovarian cancer treatment. Niraparib, a potent PARP inhibitor, has demonstrated substantial efficacy in both first-line and recurrent disease settings. By targeting homologous recombination DNA repair, a pathway frequently disrupted in ovarian cancer, particularly in the context of BRCA mutations, niraparib induces synthetic lethality. Pivotal clinical trials, including PRIMA, ENGOT-OV16/NOVA, and QUADRA, have solidified niraparib's role in the treatment paradigm. While sharing a common mechanism of action with other PARP inhibitors, niraparib exhibits a distinct toxicity profile. Notably, hematologic toxicities, particularly thrombocytopenia, and hypertension have been observed at Grade 3-4 levels. A comprehensive understanding of niraparib's efficacy and safety is essential for optimal patient selection and management.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2239-2246"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Symptomatic Nursing Management of Advanced Breast Cancer with Multiple Metastases During DS-8201 Treatment: A Case Report and Literature Review.","authors":"Na Liu, Chunhua Zhao, Dan Li, Siqi Liu, Hongyan Sun","doi":"10.2147/IJWH.S481845","DOIUrl":"10.2147/IJWH.S481845","url":null,"abstract":"<p><p>To summarise the therapeutic effects of symptomatic nursing during DS-8201 (Enhertu) treatment in a patient with advanced breast cancer with metastases to the ribs, lungs and liver. The patient, diagnosed with breast cancer with multiple metastases, was admitted to the hospital on 4 January 2021, 2 months after the discovery of a right breast mass. DS-8201 was administered during this period, and nursing care was tailored to address the patient's symptoms while on the medication. Before treatment, the Hamilton Anxiety Scale score was 22, the Pittsburgh Sleep Quality Index score was 19 and the Insomnia Severity Index score was 24. After treatment, the SAS score decreased to 15, the PSQI score to 12 and the ISI score to 11, indicating improvements in sleep quality and anxiety. Re-examination showed minimal change in left breast nodules compared with previous results, with no additional metastases detected. By the follow-up in September 2023, the patient showed no signs of obvious recurrence and had not returned to the hospital for further consultation. During a telephone follow-up in October 2023, the patient reported no significant discomfort, her condition remained stable and her health indicators were well controlled while on the medication. This study details the symptoms and corresponding nursing interventions for patients with advanced breast cancer undergoing DS-8201 treatment, providing a nursing reference for future patient care.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2231-2238"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incremental Value of Shear Wave Elastography and Contrast-Enhanced Ultrasound in the Differential Diagnosis of Breast Non-Mass-Like Lesions.","authors":"Hui Li, Lixia Chen, Shihao Xu","doi":"10.2147/IJWH.S490565","DOIUrl":"10.2147/IJWH.S490565","url":null,"abstract":"<p><strong>Objective: </strong>To analyse the parameters of shear wave elastography (SWE) and contrast-enhanced ultrasound (CEUS) in breast non-mass-like lesions (NMLs) and to evaluate the added diagnostic value of SWE and CEUS when combined with B-mode ultrasound (US) for differentiating NMLs.</p><p><strong>Methods: </strong>A total of 118 NMLs from 115 patients underwent US, SWE, and CEUS examinations. The SWE parameter with the highest areas under the receiver operating characteristic (ROC) curves (Az) and independent variables of CEUS obtained by logistic regression were used to adjust the BI-RADS-US (Breast Imaging Reporting and Data System for Ultrasound) classification. The adjusted BI-RADS risk stratification was then compared with the original classification. Additionally, the diagnostic effectiveness of US+SWE, US+CEUS, and US+SWE+CEUS combinations was calculated and compared.</p><p><strong>Results: </strong>The \"stiff rim sign\" was used as the optimal SWE indicator for BI-RADS adjustment. CEUS diagnostic criteria for adjustment included enhancement intensity, enhancement size, and the presence of radial or penetrating vessels. The Az values of US+SWE+CEUS and US+CEUS combinations were significantly higher than that of US alone (<i>P</i><0.05). However, there was no significant difference in the Az value of US+SWE and US (<i>P</i> = 0.072). US+SWE+CEUS combination showed significantly higher Az values compared to other combinations (<i>P</i><0.05), and achieved the highest sensitivity and specificity.</p><p><strong>Conclusion: </strong>Adding SWE and CEUS to conventional US enhances diagnostic accuracy for NMLs, offering a meaningful incremental value for BI-RADS classification in the assessment of NMLs.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2221-2230"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Dietary Niacin Intake and Rheumatoid Arthritis in American Women: A Study Based on National Health and Nutrition Examination Survey Database.","authors":"Xuelian Hong, Fengfeng Jiang","doi":"10.2147/IJWH.S482294","DOIUrl":"10.2147/IJWH.S482294","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to explore the association between dietary niacin intake and rheumatoid arthritis (RA) in American women through the National Health and Nutrition Examination Survey (NHANES) database.</p><p><strong>Methods: </strong>A retrospective analysis was conducted based on NHANES 2003-2016 data. Dietary niacin intake was stratified using weighted quartiles and association of dietary niacin intake with RA was explored using weighted logistic regression models and restricted cubic splines (RCS). Subgroup analysis was conducted, adjusting for all confounding factors, and a likelihood ratio test was utilized to determine significant covariates for the interaction term. Stratified analysis was conducted on significant covariates to determine their impact on the association of dietary niacin intake with RA.</p><p><strong>Results: </strong>Fourteen thousand five hundred and thirty-nine American women were selected according to inclusion and exclusion criteria, among whom 845 (4.4%) had RA. Compared with American women without RA, American women with RA had significantly lower dietary niacin intake (18.90 vs 21.22, <i>P</i><0.001). Logistic regression models and RCS analysis reported a significant linear negative correlation between dietary niacin intake and prevalence of RA (Odds Ratio (OR) < 1, <i>P</i> < 0.05, <i>P</i>-non-linear >0.05). The interaction-term <i>P</i>-values showed that this association was significantly influenced by poverty income ratio (PIR), education level, Body Mass Index (BMI), and smoking (<i>P</i> for interaction < 0.05). Stratified analysis unveiled that this association was particularly significant in individuals aged ≥ 40 years (OR: 0.98, 95% Confidence Interval (CI): 0.97-0.99, <i>P</i> < 0.05), PIR > 3.5 (OR: 0.96, 95% CI: 0.93-0.99, <i>P</i> < 0.05), with a college education or higher (OR: 0.97, 95% CI: 0.94-0.99, <i>P</i> < 0.01), BMI ≥ 30kg/m² (OR: 0.98, 95% CI: 0.96-0.99, <i>P</i> < 0.05), non-smokers (OR: 0.97, 95% CI: 0.95-0.99, <i>P</i> < 0.01), or former smokers (OR: 0.95, 95% CI: 0.95-0.99, <i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>Increased dietary niacin intake was associated with a reduced prevalence of RA, especially in women aged ≥40, PIR > 3.5, with at least a college education, BMI ≥ 30kg/m², and currently non-smokers.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2209-2219"},"PeriodicalIF":2.5,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Multiple Subserous Uterine Adenomyomas Misdiagnosed as an Ovarian Cyst, Diagnosed and Treated by Laparoscopy.","authors":"Huali Fei, Xiaoyan Guo, Jin Li, Xuejing Jin","doi":"10.2147/IJWH.S494745","DOIUrl":"10.2147/IJWH.S494745","url":null,"abstract":"<p><strong>Objective: </strong>To report a rare case of multiple subserous uterine adenomyomas diagnosed and treated by laparoscopy.</p><p><strong>Case report: </strong>A premenopausal 55-year-old woman was admitted presenting with bilateral adnexal cysts. Preoperative ultrasound and magnetic resonance imaging both indicated a right ovarian cyst. However, during the laparoscopic surgery, it was identified that the cyst was multiple subserosal uterine cystadenomas, which were located on the posterior wall of the uterus and adjacent to the right ovary. Postoperatively, the pathology revealed that it was a subserosal uterine cystadenoma.</p><p><strong>Conclusion: </strong>Subserous adenomyomas, a rare subtype of uterine adenomyomas, are commonly reported in the literature as a single adenomyoma. Furthermore, no studies have reported the presence of multiple subserosal adenomyomas. This condition requires attention, and it is essential to differentiate it from ovarian cysts. Subserosal adenomyomas exceeding 8 cm in diameter are rare, with the literature documenting a mere six cases. Larger cysts are associated with a higher likelihood of malignancy. There is currently no effective drug treatment available for this disease. Laparoscopy is an effective method for treating this condition.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2203-2208"},"PeriodicalIF":2.5,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Causality of Hypothyroidism and Adverse Pregnancy Outcomes: A Combined Mendelian Randomisation Study and Bioinformatics Analysis.","authors":"Zichen Feng, Chunxiao Dang, Zhiwei Xu, Yongchen Zhang","doi":"10.2147/IJWH.S474865","DOIUrl":"10.2147/IJWH.S474865","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have shown that hypothyroidism is strongly associated with adverse pregnancy outcomes, and that thyroxine during pregnancy comes mainly from the mother; therefore, thyroid defects in women may lead to problems such as miscarriage due to hormonal instability in early pregnancy, and foetal neurological deficits in mid- to late gestation, but whether there is a genetic causality between the two is still a matter of some controversy.</p><p><strong>Objective: </strong>Goal to investigate the possible causal association between hypothyroidism and unfavorable pregnancy outcomes through the use of bioinformatics and Mendelian randomization (MR).</p><p><strong>Methods: </strong>We used Mendelian randomization (MR) analyses using single nucleotide polymorphism (SNP) sites as instrumental variables to infer causal associations between exposures and outcomes. The inverse variance weighting method was primarily used in the analysis. Heterogeneity and horizontal multiplicity tests were also conducted to evaluate the results' robustness and the degree of causality. Lastly, preliminary bioinformatics analyses were conducted to investigate the underlying biological mechanisms.</p><p><strong>Results: </strong>The resultant variance inverse weighting method found that hypothyroidism increased the risk of developing gestational hypertension (OR=1.054, 95% CI: 1.002-1.110 P=0.042) and poor foetal growth (OR=1.081, 95% CI:1.005-1.162 P=0.035). Heterogeneity tests, multiplicity tests and leave-one-out sensitivity analyses did not reveal any heterogeneity or multiplicity effects in the estimated effects of these three exposure factors on the risk of ovarian dysfunction.</p><p><strong>Conclusion: </strong>Our research establishes genetically the causal relationship between pregnancy-related hypertension, hypothyroidism, and poor fetal growth-a relationship that could be linked to endosomal and cellular transport.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2195-2202"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nomogram Model for Predicting Minimal Breast Cancer Based on Clinical and Ultrasonic Characteristics.","authors":"Liang-Ling Cheng, Feng Ye, Tian Xu, Hong-Jian Li, Wei-Min Li, Xiao-Fang Fan","doi":"10.2147/IJWH.S482291","DOIUrl":"10.2147/IJWH.S482291","url":null,"abstract":"<p><strong>Purpose: </strong>To construct a nomogram prediction model on minimal breast cancer (≦ 10 mm) based on clinical and ultrasound parameters.</p><p><strong>Methods: </strong>Clinical and ultrasound data of 433 patients with minimal breast lesions was conducted in this retrospective study. Patients were randomly divided into a training set and a validation set with a ratio of 7:3. Independent risk factors for minimal breast cancer were selected by the least absolute shrinkage and selection operator (LASSO) regression and multivariable logistic regression analysis to construct a nomogram prediction model. The calibration curve, the clinical decision curve analysis (DCA) and the area under the curve (AUC) of the receiver operating characteristic (ROC) curve were used to evaluate the diagnostic efficacy of the model.</p><p><strong>Results: </strong>Age, margin, shape, and breast density were independent risk factors for malignant minimal breast lesions (<i>P</i> < 0.05). The AUC of the training set and validation set of the nomogram prediction model were 0.875, the sensitivity were 75.0% and 88.9%, the specificity were 83.8% and 77.7%, respectively. The mean absolute error (MAE) of the training set and validation set of the calibration curve were 0.01 and 0.024, respectively.</p><p><strong>Conclusion: </strong>The nomogram prediction model has good discrimination, calibration and clinical practical value in the training set and validation set. The minimal breast cancer prediction model based on clinical and ultrasonic features possesses high clinical value, facilitating the early diagnosis of minimal breast cancer.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2173-2184"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11663381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Who is Focusing on Women's Health: A Bibliometric Analysis of Global Research Trends on Overweight in Female Patients with Gynecologic or Breast Cancer.","authors":"Jialin Gu, Hongqun Zhang, Kang Qian, Xunwen Ye, Guolin Wu","doi":"10.2147/IJWH.S496718","DOIUrl":"10.2147/IJWH.S496718","url":null,"abstract":"<p><strong>Objective: </strong>Obesity has become a significant public health concern, strongly linked to various diseases, particularly gynecologic and breast cancers. This bibliometric review aims to analyze global research trends on overweight women, particularly those with gynecologic and breast cancers, to identify research hotspots, key contributors, and emerging areas of study.</p><p><strong>Methods: </strong>A comprehensive bibliometric analysis was conducted using the Web of Science Core Collection (WoSCC) database, covering the period from January 2013 to September 2024. Articles were screened and analyzed using tools such as VOSviewer and Biblioshiny platform, with metrics including publication volume, citation analysis, and co-authorship networks. Key areas of focus were global research trends, leading countries, institutions, authors, journals, and keyword analysis.</p><p><strong>Results: </strong>A total of 1452 publications were analyzed. Research activity on the association between obesity and gynecologic/breast cancer has steadily increased, with the United States leading in publications and citations, followed by China and Italy. Core journals included Breast Cancer Research and Treatment and Gynecologic Oncology. Key research areas identified through keyword analysis include the relationship between body mass index (BMI) and cancer risk, survival rates in cancer patients, physical activity, and the role of adipose tissue inflammation in tumor progression. Emerging topics include extracellular vesicles and cancer-associated fibroblasts.</p><p><strong>Conclusion: </strong>Global research on the relationship between obesity and female-specific cancers has shown significant growth. The findings highlight BMI, survival, and physical activity as central themes. Future research should explore the molecular mechanisms linking obesity to cancer and evaluate weight loss interventions for cancer prevention and treatment.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2157-2171"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"National Survey on the Management of Genital Prolapse in Italy.","authors":"Matteo Frigerio, Andrea Morciano, Marta Barba, Michele Carlo Schiavi, Alice Cola, Elena Cavaliere, Carlo Rappa, Mauro Cervigni","doi":"10.2147/IJWH.S485350","DOIUrl":"10.2147/IJWH.S485350","url":null,"abstract":"<p><strong>Purpose: </strong>Surgical repair is considered the mainstay of genital prolapse management. Several procedures are available both by vaginal and abdominal route, with and without mesh augmentation. The Italian UroGynecology Association (AIUG) promoted this survey with the aim of evaluating current variations in the surgical management of various types of prolapse in different clinical settings and to compare practice amongst practitioners working in high- and medium/low-volume centers.</p><p><strong>Participants and methods: </strong>The questionnaire examined four contentious areas of contemporary prolapse management. The questionnaire was emailed to the AIUG gynecologist members in Italy in 2023.</p><p><strong>Results: </strong>A total of 104 complete responses were received, resulting in a 6.9% response rate. Native-tissue repair represents the preferred option in most scenarios and was proposed by 76%, 68.3%, 94.2%, and 52.9% of practitioners in the case of primary anterior, uterovaginal, posterior, and vault prolapse respectively. The use of vaginal mesh in these scenarios is very limited. Native tissue repairs in case of recurrent anterior, posterior, or apical recurrent prolapse would be performed only by 37.5%, 47.1%, and 28% of surgeons respectively. In these cases, the use of mesh - by vaginal and abdominal route - increased significantly.</p><p><strong>Conclusion: </strong>This survey showed that in Italy surgical management of genital prolapse is very heterogeneous. Native-tissue repair remains the preferred option, but practitioners tend to lose confidence in mesh-free procedures in case of prolapse recurrence. Despite mesh kits recalls and recommendations, the use of transvaginal implants is still considered an option for prolapse repair.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2185-2193"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fumarate Hydratase-Deficient Leiomyoma with Double Mutation Sites in the FH <i>Gene</i>: A Rare Case Report and Literature Review.","authors":"Gang Wei, Jie Chen, Xing Gong, Dongdong Zhang","doi":"10.2147/IJWH.S444069","DOIUrl":"10.2147/IJWH.S444069","url":null,"abstract":"<p><strong>Background: </strong>Fumarate Hydratase (FH)-deficient uterine leiomyomas are a rare type of uterine fibroid associated with somatic or germline mutations in the FH gene. Herein, we report a case of FH-deficient uterine leiomyoma with a double-site mutation of <i>FH</i> in a 41-year-old woman.</p><p><strong>Case presentation: </strong>The woman was found to have an intrauterine mass during a routine physical examination two years prior. She had no previous medical history or family history of genetic diseases. Ultrasound examination revealed a slightly hypoechoic mass on the posterior wall of the uterus, approximately 4 cm × 4.1 cm in size, suggesting the possibility of a uterine fibroid. The patient opted for regular annual follow-ups and received no specific treatment. However, during the subsequent two years of follow-up, the mass was found to increase in size annually. The patient then came to our hospital and underwent laparoscopic myomectomy. Postoperative pathology indicated that the tumor was negative for FH but positive for 2-succinocysteine (2SC), suggesting a potential diagnosis of FH-deficient leiomyoma. Sanger sequencing analysis demonstrated that the leiomyoma harbored the c.724C>T (p.L242F) mutation in exon 5 and the c.1292C>T (p.T431I) mutation in exon 9 of the FH gene, further confirming the diagnosis of FH-deficient leiomyoma.</p><p><strong>Conclusion: </strong>We report a rare case of FH-deficient uterine leiomyoma with double mutation sites in the FH gene. Pathological examination and genetic testing are crucial for a definitive diagnosis.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"16 ","pages":"2137-2141"},"PeriodicalIF":2.5,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11640030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}