Laura Krygere, Ruta Bartasiene, Agne Kozlovskaja-Gumbriene, Egle Drejeriene
{"title":"斯韦尔综合征患者的不孕症治疗:病例报告。","authors":"Laura Krygere, Ruta Bartasiene, Agne Kozlovskaja-Gumbriene, Egle Drejeriene","doi":"10.1007/s10815-025-03442-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To highlight the successful use of assisted reproductive technologies in achieving pregnancy and healthy childbirth in a woman with Swyer syndrome, a rare disorder of sex development characterized by gonadal dysgenesis, elevated gonadotropin levels, oestrogen insufficiency, tall stature, delayed puberty, and primary amenorrhoea. This case highlights the efficacy of reproductive treatments for individuals with nonfunctional gonads resulting from complete gonadal dysgenesis.</p><p><strong>Methods: </strong>This report describes a woman diagnosed with Swyer syndrome at 18 years, presenting with primary amenorrhoea and delayed puberty. Following diagnosis, the patient underwent bilateral gonadectomy due to the increased risk of germ cell neoplasia and began hormone replacement therapy to address oestrogen insufficiency. At 31, the patient pursued fertility treatment, undergoing in vitro fertilisation (IVF) with donated oocytes.</p><p><strong>Results: </strong>The IVF treatment using donor oocytes led to a successful pregnancy without complications. The pregnancy culminated in the delivery of a healthy baby via caesarean section, marking a successful outcome for a patient with Swyer syndrome.</p><p><strong>Conclusion: </strong>Assisted reproductive technologies, particularly in vitro fertilisation (IVF) using oocyte donation, provide a feasible option for individuals diagnosed with Swyer syndrome to achieve parenthood. This case adds to the growing research on reproductive success in women with complete gonadal dysgenesis, emphasizing the potential for positive outcomes through specific reproductive approaches.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2000,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Infertility management in a patient with Swyer syndrome: a case report.\",\"authors\":\"Laura Krygere, Ruta Bartasiene, Agne Kozlovskaja-Gumbriene, Egle Drejeriene\",\"doi\":\"10.1007/s10815-025-03442-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To highlight the successful use of assisted reproductive technologies in achieving pregnancy and healthy childbirth in a woman with Swyer syndrome, a rare disorder of sex development characterized by gonadal dysgenesis, elevated gonadotropin levels, oestrogen insufficiency, tall stature, delayed puberty, and primary amenorrhoea. This case highlights the efficacy of reproductive treatments for individuals with nonfunctional gonads resulting from complete gonadal dysgenesis.</p><p><strong>Methods: </strong>This report describes a woman diagnosed with Swyer syndrome at 18 years, presenting with primary amenorrhoea and delayed puberty. Following diagnosis, the patient underwent bilateral gonadectomy due to the increased risk of germ cell neoplasia and began hormone replacement therapy to address oestrogen insufficiency. At 31, the patient pursued fertility treatment, undergoing in vitro fertilisation (IVF) with donated oocytes.</p><p><strong>Results: </strong>The IVF treatment using donor oocytes led to a successful pregnancy without complications. The pregnancy culminated in the delivery of a healthy baby via caesarean section, marking a successful outcome for a patient with Swyer syndrome.</p><p><strong>Conclusion: </strong>Assisted reproductive technologies, particularly in vitro fertilisation (IVF) using oocyte donation, provide a feasible option for individuals diagnosed with Swyer syndrome to achieve parenthood. This case adds to the growing research on reproductive success in women with complete gonadal dysgenesis, emphasizing the potential for positive outcomes through specific reproductive approaches.</p>\",\"PeriodicalId\":15246,\"journal\":{\"name\":\"Journal of Assisted Reproduction and Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-03-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Assisted Reproduction and Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10815-025-03442-4\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03442-4","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Infertility management in a patient with Swyer syndrome: a case report.
Purpose: To highlight the successful use of assisted reproductive technologies in achieving pregnancy and healthy childbirth in a woman with Swyer syndrome, a rare disorder of sex development characterized by gonadal dysgenesis, elevated gonadotropin levels, oestrogen insufficiency, tall stature, delayed puberty, and primary amenorrhoea. This case highlights the efficacy of reproductive treatments for individuals with nonfunctional gonads resulting from complete gonadal dysgenesis.
Methods: This report describes a woman diagnosed with Swyer syndrome at 18 years, presenting with primary amenorrhoea and delayed puberty. Following diagnosis, the patient underwent bilateral gonadectomy due to the increased risk of germ cell neoplasia and began hormone replacement therapy to address oestrogen insufficiency. At 31, the patient pursued fertility treatment, undergoing in vitro fertilisation (IVF) with donated oocytes.
Results: The IVF treatment using donor oocytes led to a successful pregnancy without complications. The pregnancy culminated in the delivery of a healthy baby via caesarean section, marking a successful outcome for a patient with Swyer syndrome.
Conclusion: Assisted reproductive technologies, particularly in vitro fertilisation (IVF) using oocyte donation, provide a feasible option for individuals diagnosed with Swyer syndrome to achieve parenthood. This case adds to the growing research on reproductive success in women with complete gonadal dysgenesis, emphasizing the potential for positive outcomes through specific reproductive approaches.
期刊介绍:
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.