Moegni Fernandi, Nilasari Dewita, Hakim Surahman, Priyatini Tyas, Meutia Alfa Putri, Hidayah Gita Nurul
Reconstructive Aesthetic Urogynecology Division, Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia, Indonesia.
Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia - Cipto Mangunkusumo National General Hospital, Indonesia.
Int J Surg Case Rep. 2022 Sep;98:107516. doi: 10.1016/j.ijscr.2022.107516. Epub 2022 Aug 19.
Amenorrhea can be a transient, intermittent, or permanent condition reflecting the overall health condition of a woman. Primary amenorrhea and ambiguous genitalia appearance warrant more comprehensive diagnosis and treatment, especially in those planning to have a married life.
A case a 24 years old woman was referred to our hospital with a chief complaint of primary amenorrhea. Previously, she was diagnosed with vaginal agenesis. However, a thorough examination revealed ambiguous genitalia and karyotype result of 46, XY. Following several rounds of discussion with the patient, her family, and her partner, she chose to remain a female and even planned to be married following the treatments. A vaginoplasty followed by clitoral reduction was done with a satisfactory result.
Disorders of sex development and differentiation is a rare but devastating condition. Various biological, psychological, and social issues are surrounding those affected by it. The burden was further aggravated for those who are late to discover their condition, especially those planning to be married.
Comprehensive and multidisciplinary approaches are needed to ensure the best outcome for DSD patients.
闭经可能是一种反映女性整体健康状况的短暂、间歇性或永久性状况。原发性闭经和生殖器外观模糊需要更全面的诊断和治疗，尤其是对于那些计划步入婚姻生活的人。
一名24岁女性因原发性闭经为主诉被转诊至我院。此前，她被诊断为阴道发育不全。然而，全面检查发现生殖器外观模糊，核型结果为46，XY。在与患者、其家人及其伴侣进行了几轮讨论后，她选择保留女性身份，甚至计划在接受治疗后结婚。进行了阴道成形术并随后进行了阴蒂缩小术，结果令人满意。
性发育和分化障碍是一种罕见但极具破坏性的疾病。受其影响的人面临各种生物学、心理和社会问题。对于那些较晚发现自己病情的人，尤其是那些计划结婚的人来说，负担会进一步加重。
需要综合和多学科的方法来确保性发育障碍患者获得最佳治疗效果。
