Rare medical conditions are difficult to study due to the lack of patient volume and limited research resources, and as a result of these challenges, progress in the care of patients with these conditions is slow. Individuals born with differences of sex development (DSD) fall into this category of rare conditions and have additional social barriers due to the intimate nature of the conditions. There is also a lack of general knowledge in the medical community about this group of diverse diagnoses. Despite these limitations, progress has been made in the study of effective ways to care for patients who are born with chromosomal or anatomical differences of their internal reproductive organs or external genitalia. Advocacy groups have placed a spotlight on these topics and asked for a thoughtful approach to educate parents of newborns, medical providers, and the adolescents and young adults themselves as they mature.¹ There is growing interest in the approaches to surgical reconstruction of the genitalia and the management of internal gonads, specifically the timing of procedures and the indications for those procedures.² Advocates suggest deferring surgical procedures until the affected individual can participate in the decision-making process. This approach requires a roadmap for addressing the long-term implications of delayed surgical management. Presented here is a review of the specific issues regarding the complex management of the various categories of DSD.

由于缺乏患者数量和研究资源有限，罕见的医疗条件难以研究，并且由于这些挑战，这些疾病患者的护理进展缓慢。天生具有性别发育差异 (DSD) 的个体属于此类罕见疾病，并且由于这些疾病的亲密性质而具有额外的社会障碍。医学界也缺乏关于这组不同诊断的一般知识。尽管有这些限制，但在研究如何有效地照顾天生就存在内部生殖器官或外生殖器的染色体或解剖结构差异的患者方面取得了进展。倡导团体将这些主题放在了聚光灯下，并要求采取周到的方法来教育新生儿的父母，¹人们对生殖器手术重建和内部性腺管理的方法越来越感兴趣，特别是手术时间和这些手术的适应症。²倡导者建议推迟外科手术，直到受影响的个人可以参与决策过程。这种方法需要一个路线图来解决延迟手术管理的长期影响。这里介绍的是有关各种 DSD 的复杂管理的具体问题的回顾。