Krygere Laura, Bartasiene Ruta, Kozlovskaja-Gumbriene Agne, Drejeriene Egle
Department of Obstetrics and Gynaecology, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str., Kaunas, Lithuania.
Centre for Reproductive Medicine, Lithuanian University of Health Sciences Kaunas Clinics, Kaunas, Lithuania.
J Assist Reprod Genet. 2025 May;42(5):1689-1695. doi: 10.1007/s10815-025-03442-4. Epub 2025 Mar 18.
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.
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.
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.
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.
强调辅助生殖技术在一名患有斯维尔综合征的女性实现妊娠和健康分娩方面的成功应用。斯维尔综合征是一种罕见的性发育障碍，其特征为性腺发育不全、促性腺激素水平升高、雌激素不足、身材高大、青春期延迟和原发性闭经。本病例突出了针对完全性腺发育不全导致性腺无功能的个体进行生殖治疗的疗效。
本报告描述了一名18岁被诊断为斯维尔综合征的女性，表现为原发性闭经和青春期延迟。诊断后，由于生殖细胞瘤变风险增加，患者接受了双侧性腺切除术，并开始激素替代疗法以解决雌激素不足问题。31岁时，患者寻求生育治疗，接受了使用捐赠卵母细胞的体外受精（IVF）。
使用捐赠卵母细胞的IVF治疗成功妊娠且无并发症。妊娠最终通过剖宫产分娩出一名健康婴儿，这标志着一名斯维尔综合征患者的治疗取得成功。
辅助生殖技术，特别是使用卵母细胞捐赠的体外受精（IVF），为被诊断为斯维尔综合征的个体实现为人父母提供了一种可行的选择。本病例为关于完全性腺发育不全女性生殖成功的不断增长的研究增添了内容，强调了通过特定生殖方法获得积极结果的潜力。
