46,XY性发育障碍成年女性的困境：一例报告
Dilemmas of adult woman with 46,XY disorders of sexual development: A case report.
作者信息
Yonathan Kevin, Wahyudi Irfan, Rodjani Arry, Situmorang Gerhard Reinaldi
机构信息
Department of Urology, Faculty of Medicine, Universitas Indonesia - dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia.
Department of Urology, Faculty of Medicine, Universitas Indonesia - dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia.
出版信息
Int J Surg Case Rep. 2023 Oct 27;112:109004. doi: 10.1016/j.ijscr.2023.109004.
INTRODUCTION AND IMPORTANCE
Disorders of sexual development (DSD) are a rare but disastrous condition. A plethora of biological, psychological, and ethical problems surround the management of DSD cases.
CASE PRESENTATION
A case of 25-year-old woman with a complaint of primary amenorrhea was presented. She wanted to be examined as she had planned to be married. However, examinations revealed that she had 46, XY karyotype, complete androgen insensitivity syndrome, and vaginal agenesis. After several family meetings, the patient, her family, and her partner decided that she would remain as a woman despite the results.
CLINICAL DISCUSSION
Disorders of sexual development are not only about the biological complexities, but also the psychological, social, and ethical dilemmas faced by both the patient and clinicians. A coordinated care team plays a crucial role in addressing the unique challenges presented by DSD, particularly for those diagnosed later in life.
CONCLUSION
Comprehensive and multidisciplinary approach is essential for managing DSD patients.
引言与重要性
性发育障碍（DSD）是一种罕见但后果严重的病症。大量生物学、心理学和伦理问题围绕着DSD病例的管理。
病例介绍
介绍了一名25岁主诉原发性闭经的女性病例。她因计划结婚而希望接受检查。然而，检查发现她的核型为46, XY，患有完全性雄激素不敏感综合征及阴道发育不全。经过几次家庭会议后，患者、其家人和伴侣决定，尽管有检查结果，她仍将保持女性身份。
临床讨论
性发育障碍不仅涉及生物学复杂性，还涉及患者和临床医生所面临的心理、社会和伦理困境。一个协调的护理团队在应对DSD带来的独特挑战方面起着至关重要的作用，特别是对于那些在生命后期才被诊断出的患者。
结论
综合多学科方法对于管理DSD患者至关重要。
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