Journal of Assisted Reproduction and Genetics最新文献

{"title":"A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications.","authors":"Yingliu Luo, Xi Liao, Juan Wen, Weijuan Wu, Guizhi Tang, Huimin Zhu, Yulin Jiang, Desheng Liang, Zhuo Li, Lingqian Wu","doi":"10.1007/s10815-025-03394-9","DOIUrl":"https://doi.org/10.1007/s10815-025-03394-9","url":null,"abstract":"<p><strong>Purpose: </strong>Reporting a rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis (CGD) after receiving hormone replacement therapy (HRT), oocyte donation, and overcoming multiple pregnancy complications.</p><p><strong>Methods: </strong>An infertile female presenting with primary amenorrhea was recruited. Comprehensive genetic evaluation including SRY and AZF gene testing, chromosome karyotyping, fluorescence in situ hybridization (FISH), CNV-seq, and whole-exome sequencing (WES) was performed. This patient was treated with HRT and oocyte donation and received appropriate treatment during pregnancy.</p><p><strong>Results: </strong>The patient showed a hypoplastic uterus and absent bilateral ovaries via ultrasound detection. She was identified to be a 45,X/46,XY mosaicism through CNV-seq analysis of peripheral blood, saliva, urine, and buccal cells. And further gonadal pathology further confirmed a diagnosis of CGD. Following successful management of multiple pregnancy complications, she delivered a healthy full-term infant.</p><p><strong>Conclusions: </strong>This is the second case around the world and the first case in China of 45,X/46,XY mosaic female with CGD who experienced a successful pregnancy via occytes donation.And we provided a detailed examination and treatment process for a series of complications in this case, especially the management of threatened miscarriages and preterm labour.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term outcomes and re-intervention rates in women undergoing mri-guided focused ultrasound (mrgfus) for uterine fibroids: a 7-year follow-up study.","authors":"Yael Inbar, Jaron Rabinovici, Rachael Sverdlove, Tomer Ziv-Baran, Ronit Machtinger","doi":"10.1007/s10815-025-03405-9","DOIUrl":"https://doi.org/10.1007/s10815-025-03405-9","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the long-term outcomes of MR-guided focused ultrasound (MRgFUS) for treating uterine fibroids, focusing on re-intervention rates, pregnancy outcomes, and the onset of menopause over a 7-year follow-up period.</p><p><strong>Materials and methods: </strong>We conducted a historical cohort study of 99 women with symptomatic uterine fibroids who underwent MRgFUS between 2013 and 2020 at a single tertiary medical center. Data collection included patient demographics, treatment details, and follow-up interviews. Re-intervention rates were evaluated using Kaplan-Meier curves and Cox regression analysis to identify predictors of further treatments, with a specific focus on age-related differences.</p><p><strong>Results: </strong>Over a median follow-up of 6.1 years, 33.1% of women required re-intervention for persistent fibroid symptoms. The median patient's age was 43 years old. Women aged ≤ 43 years had significantly higher re-intervention rates than those aged 44 + years (47.5% vs. 16.7%, p = 0.005). Multivariable Cox regression identified age as the sole significant predictor of re-intervention (HR_{44+vs. <43} 0.303 95% CI 0.128-0.714, p = 0.006). Sixteen women conceived after MRgFUS, resulting in 21 pregnancies, with 72.2% live births and a spontaneous miscarriage rate of 22.2%. The mean age of menopause was 51.4 years, similar to global averages.</p><p><strong>Conclusions: </strong>MRgFUS is a practical, noninvasive option for treating symptomatic uterine fibroids. Older women show lower re-intervention rates. Pregnancies post-MRgFUS are possible, and the procedure does not appear to affect the onset of menopause. Age remains a crucial predictor for further re-intervention.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of epigenetic regulation in diminished ovarian reserve.","authors":"Wen Chen, Li Dong, Chaofeng Wei, Haicui Wu","doi":"10.1007/s10815-024-03301-8","DOIUrl":"10.1007/s10815-024-03301-8","url":null,"abstract":"<p><p>Diminished ovarian reserve (DOR) is characterized by a decrease in the number and quality of oocytes, with its incidence increasing annually. Its pathogenesis remains unclear, making it one of the most challenging problems in the field of assisted reproduction. Epigenetic modification, a molecular mechanism affecting genomic activity and expression without altering the DNA sequence, has been widely studied in reproductive medicine and has attracted considerable attention regarding DOR. This review comprehensively examines the various epigenetic regulatory changes in ovarian granulosa cells (OGCs) and oocytes during DOR. DNA methylation plays a crucial role in regulating granulosa cell function, hormone production, and oocyte development, maturation, and senescence. Histone modifications are involved in regulating follicular activation, while non-coding RNAs, such as long noncoding RNAs (lncRNAs) and microRNAs (miRNAs), regulate granulosa cell function and oocyte development. N6-methyladenosine (m6A) modifications are associated with age-related oocyte senescence. Epigenetic clocks based on DNA methylation show potential in predicting ovarian reserve in DOR. Furthermore, it discusses the potential for utilizing epigenetic mechanisms to better diagnose and manage DOR.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"389-403"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Embryoscopy and targeted embryo biopsy for the management of early abortion.","authors":"Jean Paul Rouleau, Jairo Hernández, Manuela Costa, Tony Gordon, Leoni Xanthopoulou, Pablo Martín-Vasallo, Frederick Naftolin, Angela Palumbo","doi":"10.1007/s10815-024-03356-7","DOIUrl":"10.1007/s10815-024-03356-7","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the safety, accuracy, and effectiveness of embryoscopy for the management of early abortion and to test the hypothesis that targeted embryo and chorionic villi sampling avoids maternal cell contamination (MCC) for genetic testing of products of conception (POC).</p><p><strong>Methods: </strong>This ambispective study included 74 consecutive patients presenting with early abortion. Gestations between 5 and 9 weeks, obtained either spontaneously or through assisted reproductive technologies were included. Embryoscopies were performed under transabdominal ultrasound guidance using a 5-mm hysteroscope and forceps and scissors for sampling and resection of the gestational sac. Primary outcomes were the feasibility of the technique, the diagnostic accuracy as measured by absence of maternal cell contamination and the complication rate. The secondary outcome was the comparison between array-comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a subgroup of 20 patients.</p><p><strong>Results: </strong>Seventy-four consecutive procedures were performed, with no cases of maternal contamination and no complications. In 60 patients, a follow-up sonohysterography was performed which showed a normal cavity. The remaining 14 patients had a normal transvaginal ultrasound 1 month after the embryoscopy. In the subgroup of 20 patients analyzed by both aCGH and NGS, we had one case of MCC with aCGH and none with NGS. Differences were found in the detection of mosaicism and triploidy.</p><p><strong>Conclusion: </strong>Embryoscopy for uterine evacuation minimizes maternal contamination and post-operative complications. Safe and rapid embryoscopy furnishes prompt and reliable genetic analysis of POC that is of great importance in clinical management of early pregnancy failure.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"655-664"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infection with SARS-CoV-2 during the first trimester did not adversely impact perinatal and obstetric outcomes subsequent to in vitro fertilization with frozen embryo transfer: a retrospective cohort study.","authors":"Jie Zhang, Jing Ye, Hongyuan Gao, Xiaoyan Mao, Ling Wu","doi":"10.1007/s10815-025-03390-z","DOIUrl":"10.1007/s10815-025-03390-z","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the impact of first-trimester COVID-19 infection on the perinatal and obstetric outcomes following in vitro fertilization-frozen embryo transfer.</p><p><strong>Methods: </strong>This retrospective study was conducted at a university-affiliated IVF center. The infection group included women who contracted SARS-CoV-2 during the first trimester following frozen embryo transfer in China's initial pandemic wave that occurred from 7 December 2022 to 7 January 2023. The control group consisted of pregnant women from the pre-pandemic period, considering the widespread incidence of the disease among the Chinese population during such a large outbreak. The primary outcome was perinatal and obstetric parameters.</p><p><strong>Results: </strong>A total of 346 pregnant women who tested positive for COVID-19 during the first trimester were included in the analysis, while the control group comprised 705 uninfected women (pre-COVID-19 controls). Perinatal outcomes, such as preterm birth, low birthweight, birthweight Z scores, macrosomia, small for gestational age, large for gestational age, and congenital malformations, showed no significant differences between the infected and control groups in both the unadjusted and confounder-adjusted logistic regression models. Additionally, there were no significant differences between the groups concerning obstetric complications, including gestational diabetes mellitus, hypertensive disorders of pregnancy, placenta previa, preterm premature rupture of the membrane, and mode of delivery.</p><p><strong>Conclusion: </strong>The current study demonstrated that contracting COVID-19 during the first trimester did not adversely impact future obstetric and perinatal outcomes following in vitro fertilization-frozen embryo transfer. This data holds practical significance and offers essential insights for reproductive specialists and obstetricians advising expectant mothers.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"589-598"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ovarian function after COVID-19: long-term effects and vaccine safety in ART patients.","authors":"Yamila Herrero, Candela Velazquez, Natalia Pascuali, Vanesa Hauk, Ignacio de Zúñiga, Gustavo Martínez, Mariano Lavolpe, Fernando Neuspiller, María Florencia Veiga, Leopoldina Scotti, Dalhia Abramovich, Fernanda Parborell","doi":"10.1007/s10815-025-03403-x","DOIUrl":"10.1007/s10815-025-03403-x","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate the long-term impact of mild COVID-19 infection and COVID-19 vaccination on ovarian function in patients undergoing assisted reproductive technology (ART). Specifically, we assessed ovarian outcomes between 9 and 18 months post-infection and investigated the effects of COVID-19 vaccines (inactivated virus and adenovirus) on reproductive parameters.</p><p><strong>Methods: </strong>The study included two objectives: (a) examining ovarian function in post-COVID-19 patients (9-18 months post-infection) compared to a control group and (b) comparing reproductive outcomes in vaccinated versus unvaccinated patients. According to the study objectives, ART patients were divided into the following groups: a control group (n = 30), a post-COVID-19 group (n = 55), an unvaccinated group (n = 70), and a vaccinated group (n = 55). Findings revealed a reduction in the number of retrieved and mature oocytes in patients over 36 years in the post-COVID-19 group. Lower IL-1β levels were found in follicular fluid (FF) of post-COVID-19 patients, while VEGF levels were reestablished between 9 and 18 months post-infection. Although cell migration was reduced in endothelial cells incubated with post-COVID-19 FF, angiogenic factor levels and DNA integrity remained stable. No significant differences in retrieved or mature oocytes were observed between vaccinated and unvaccinated patients.</p><p><strong>Conclusions: </strong>VEGF levels and DNA integrity in FF from post-COVID-19 patients were normalized between 9 and 18 months post-infection. Additionally, COVID-19 vaccination did not negatively impact ovarian response in ART patients, supporting vaccine safety in reproductive contexts.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"563-576"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical utilization and outcomes over eight consecutive years following oocyte cryopreservation.","authors":"Gayathree Murugappan, Mark Sikder, Sergio Vaccari, Debra Minjarez, Nam Tran, Julia Kim, Peter Klatsky","doi":"10.1007/s10815-024-03334-z","DOIUrl":"10.1007/s10815-024-03334-z","url":null,"abstract":"<p><strong>Objective: </strong>To compare embryologic and clinical outcomes following oocyte cryopreservation (OC) and immediate fertilization for embryo cryopreservation (EC) in non-infertile patients.</p><p><strong>Design: </strong>Retrospective cohort study SUBJECTS: Patients treated at a single fertility center from 2016 to 2023.</p><p><strong>Exposure: </strong>OC MAIN OUTCOME MEASURES: Blastocyst development was compared between women undergoing OC and non-infertile women undergoing immediate fertilization for EC between 18 and 42 years of age. ICSI, PGT-A, and eSET were used in all cycles.</p><p><strong>Results: </strong>Outcomes from 3697 thawed MII oocytes obtained from 239 OC patients were compared to 28,959 fresh MII oocytes obtained from 2031 patients undergoing immediate fertilization for EC. Average thaw MII survival rate was 92% and high across age groups. Post-thaw oocytes demonstrate lower fertilization rate compared to fresh oocytes (85% v 90%, p < 0.05). As oocyte age increased, the mean number of MII used per blastocyst increased to a greater extent among thawed compared to fresh oocytes (2.9 v 2.2 MII age 18-34, 3.3 v 2.5 MII age 34-37, 3.9 v 2.9 MII age 38-40, 7.5 v 3.9 MII age 41-42, p < 0.05). Among patients achieving transfer of a euploid blastocyst, clinical pregnancy rate and live birth rate per transfer were similar using thawed and fresh oocytes (p = 0.82 and p = 0.79, respectively).</p><p><strong>Conclusions: </strong>Blastocyst conversion is lower from thawed oocytes compared to fresh oocytes. Differences in blastocyst development between thawed and frozen oocytes increase with advancing oocyte age, suggesting that older oocytes may be less efficient in their conversion to blastocysts after vitrification and warming.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"413-421"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medical treatment before in-vitro fertilization in patients with adenomyosis: a systematic review and meta-analysis.","authors":"Giulia Galati, Carlotta Olivieri, Martina Cosentino, Ilham Azenkoud, Sara Cugini, Giuseppe Sorrenti, Giuseppe Rizzo, Ludovico Muzii","doi":"10.1007/s10815-024-03323-2","DOIUrl":"10.1007/s10815-024-03323-2","url":null,"abstract":"<p><p>The objective of this study is to evaluate if medical treatment before assisted reproductive technology (ART) improves the results in infertile patients with adenomyosis. A literature search was performed with EMBASE, PubMed, and Cochrane. The primary outcome was clinical pregnancy rate (CPR). Secondary outcomes were live birth rate (LBR) per cycle and miscarriage rate (MR) after ART with or without medical pretreatment. Additionally, a comparison was made between women undergoing medical pretreatment before frozen embryo transfer (FET) and those who underwent FET alone, including any type of endometrial preparation. Ten studies were included. The present meta-analysis supports the use of long-term GnRH agonist therapy in patients with adenomyosis, which enhances the CPR (odds ratio (OR) 1.49, 95% CI 1.15 to 1.92) in IVF/ICSI with fresh ET, while the comparison in women undergoing FET cycles did not reach statistical significance (OR 1.34 95% CI 0.70-2.55). Pretreatment with GnRH agonist did not demonstrate a benefit on the LBR and MR per cycle in IVF/ICSI with fresh ET in comparison to standard ovarian stimulation protocols. Similar results were observed in the setting of FET, failing to indicate a superiority of GnRH agonist pretreatment over standard FET protocols for LBR and MR. In conclusion, GnRH agonist pretreatment before ART carries a potential benefit in improving outcomes in terms of higher CPR, but there is no significant impact on LBR and MR. Pretreatment with GnRH agonists could be adopted as a possible alternative ART protocol in selected patients with adenomyosis and infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"381-388"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duration of cryostorage is not associated with rates of thaw survival, fertilization, blastulation and ploidy, or pregnancy outcomes of vitrified human oocytes.","authors":"Sarah Roger, Samantha Estevez, Carlos Hernandez-Nieto, Shawn Kripalani, Atoosa Ghofranian, Morgan Baird, Joseph Lee, Richard Slifkin, Christine Briton-Jones, Alan Copperman, Rachel Danis","doi":"10.1007/s10815-024-03350-z","DOIUrl":"10.1007/s10815-024-03350-z","url":null,"abstract":"<p><strong>Purpose: </strong>This study is to evaluate duration of oocyte cryostorage and association with thaw survival, fertilization, blastulation, ploidy rates, and pregnancy outcomes in patients seeking fertility preservation.</p><p><strong>Methods: </strong>Retrospective cohort study to evaluate clinical outcomes in patients who underwent fertility preservation from 2011 to 2023 via oocyte vitrification for non-oncologic indications. Primary outcome was thaw survival rate. Secondary outcomes included rates of fertilization, blastulation and embryo ploidy, as well asn pregnancy outcomes. Demographic, controlled ovarian stimulation, and laboratory data were collected for each patient. Analyses were conducted using Kruskal-Wallis, Fisher's exact test, or Chi-squared test, as appropriate. A multivariate logistic regression analysis was utilized, and adjusted odds ratios with 95% confidence intervals were calculated using Group A as the reference group.</p><p><strong>Results: </strong>A total of 5995 oocytes met inclusion criteria. These were divided into quartiles based on duration of cryostorage. Group A included oocytes in cryostorage for 0-2 years; Group B, 3-5 years; and Group C, 6-11 years. Significant differences were found when comparing thaw survival (p < 0.0001), fertilization (p = 0.0009), and blastulation rates (p = 0.0002) among groups; however, no significant differences were seen after multivariate GEE regression analysis. No significant differences were seen in rates of euploidy (p = 0.70), live birth (p = 0.81), and clinical pregnancy (p = 0.58) among groups. After analyzing years in cryostorage as a continuous variable and controlling for confounders, duration of cryostorage was not related to odds of thaw, fertilization, blastulation, euploid rates, or pregnancy outcomes.</p><p><strong>Conclusion: </strong>Length of time in cryostorage is not associated with compromised rates of oocyte thaw survival, fertilization, blastulation, ploidy, or pregnancy outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"525-532"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142925986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.","authors":"Zhijin Hou, Fangjie Jiang, Wenan Li, Shenglan Fu, Yushi Meng","doi":"10.1007/s10815-024-03366-5","DOIUrl":"10.1007/s10815-024-03366-5","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the genetic etiology in an infertile patient presenting with consistently elevated progesterone levels.</p><p><strong>Methods: </strong>Genomic DNA was extracted from the patient's blood sample and subjected to whole-genome sequencing (NGS) using the Illumina NovaSeq platform. Bioinformatic analyses were conducted to identify single nucleotide variants (SNVs) and insertion-deletion mutations (Indels) potentially associated with the patient's clinical phenotype. These variants were subsequently validated using Sanger sequencing. To further assess the functional implications of these genetic variants, three-dimensional protein structure simulations and substrate molecular docking analyses were performed on the variant proteins.</p><p><strong>Results: </strong>A point mutation, c.1096 G > T (p.Val366Leu), was identified in the patient's CYP17A1 gene. Compared to the wild type, the mutant exhibited no significant changes in the overall or local three-dimensional structure, and molecular docking analysis showed no notable difference in binding energy. A literature review indicated that this mutation site is located in the region where the CYP17A1 enzyme interacts with cytochrome b5 (Cyt b5).</p><p><strong>Conclusions: </strong>We report, for the first time, that a novel mutation in the CYP17A1 gene in an infertile woman may have led to isolated 17,20-lyase deficiency. The patient successfully achieved pregnancy and delivered a healthy baby through in vitro fertilization (IVF).</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"679-686"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}