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Purpose <p>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> Methods <p>This report describes a woman diagnosed with Swyer syndrome at 18&#xa0;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> Results <p>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> Conclusion <p>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>

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Infertility management in a patient with Swyer syndrome: a case report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月18日

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  • Laura Krygere,
  • Ruta Bartasiene,
  • Agne Kozlovskaja–Gumbriene,
  • Egle Drejeriene

摘要

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.