McCracken Kate A, Fallat Mary E
Kosair Children's Hospital, Norton Healthcare, Louisville, Kentucky 40202.
Division of Pediatric Surgery, Kosair Children's Hospital, Louisville, Kentucky; Department of Surgery, Division Chief of Pediatric Surgery, University of Louisville, 315 East Broadway, Suite 565, Louisville, Kentucky 40202.
Semin Pediatr Surg. 2015 Apr;24(2):88-92. doi: 10.1053/j.sempedsurg.2015.01.009. Epub 2015 Jan 14.
Disorders of sexual development (DSDs) are relatively rare congenital conditions in which the development of the chromosomal, gonadal, or anatomic sex is atypical. Some conditions may not manifest until puberty or adulthood. The examination and workup of either an infant or an older patient with suspected DSD should be directed and performed systematically by a multidisciplinary team. Ideally, the team will include those with not only an interest in DSD but also experience with this group of patients. This article will briefly orient the reader to the conditions and decisions that may have been made during infancy, childhood, and adolescence and then focus on the challenges that may accompany transitioning the care of DSD patients from pediatric to adult surgeons and specialists to enable appropriate decisions and care. The actual transition will optimally involve a well-developed action plan that will take place gradually over a number of years as the person becomes educated about their condition and empowered to participate knowingly and actively in their own care.
性发育障碍(DSDs)是相对罕见的先天性疾病,其中染色体、性腺或解剖学性别的发育是不典型的。有些情况可能直到青春期或成年期才会显现。对于疑似患有DSD的婴儿或年长患者的检查和诊断应由多学科团队系统地指导和进行。理想情况下,该团队不仅应包括对DSD感兴趣的人员,还应包括有这类患者治疗经验的人员。本文将简要介绍读者可能在婴儿期、儿童期和青春期遇到的情况及做出的决策,然后重点关注将DSD患者的护理从儿科外科医生和专科医生过渡到成人外科医生和专科医生时可能面临的挑战,以实现适当的决策和护理。实际的过渡最好涉及一个完善的行动计划,该计划将随着患者对自身病情的了解以及有能力在知情和积极的情况下参与自身护理,在数年时间里逐步实施。