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何时关注形态,何时关注功能:46 XY性发育异常患者手术重建的时机

When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD.

作者信息

Li Oscar, Gabrielson Andrew, Wang Ming-Hsien

机构信息

James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Urol Case Rep. 2023 Sep 21;51:102572. doi: 10.1016/j.eucr.2023.102572. eCollection 2023 Nov.

Abstract

Differences of sexual development (DSD) refers to congenital conditions characterized by discordant appearances of external genitalia with respect to sex chromosomes. We present a case of a 46 XY DSD adolescent with bilateral undescended testes and severe scrotolabial anomalies who was lost to follow-up for several years who recently presented with "recurrent UTIs." Although the patient desired immediate reconstruction to void while standing, shared-decision making was used to first address his bilateral cryptorchidism, with plans to delay other reconstruction until the patient is older. Pediatric patients with DSD have complicated medical and surgical problems and require a collaborative multidisciplinary team.

摘要

性发育差异(DSD)是指以性染色体与外生殖器外观不一致为特征的先天性疾病。我们报告一例46,XY DSD青少年病例,该患者双侧睾丸未降且阴囊阴唇严重畸形,失访数年,近期因“复发性尿路感染”前来就诊。尽管患者希望立即进行重建手术以便站立排尿,但我们采用共同决策的方式,首先处理其双侧隐睾问题,并计划在患者年龄稍大时再延迟进行其他重建手术。患有DSD的儿科患者存在复杂的医学和外科问题,需要多学科协作团队进行治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e583/10561031/b041ead46cd5/gr1.jpg

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