Kim Kun Suk, Kim Jongwon
Department of Urology, University of Ulsan College of Medicine, Seoul, Korea.
Korean J Urol. 2012 Jan;53(1):1-8. doi: 10.4111/kju.2012.53.1.1. Epub 2012 Jan 25.
The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaphrodite', and 'pseudohermaphrodite' is out of date as well as confusing, and many urologists are concerned that these confusing terms could be perceived to be pejorative by some affected families. In response to concerns regarding outdated and controversial terms, the Chicago Consensus held in 2005 recommended new terminology based on the umbrella term disorders of sex differentiation (DSDs). The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, considering all aspects, including psychological care and full disclosure of alternatives relating to surgery type and timing. Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt to provide a balanced perspective for new taxonomy, clinical evaluation, and medical, surgical, and psychological management of DSD.
新生儿的诞生是家庭中最具戏剧性的事件之一，而第一个问题通常是“是男孩还是女孩？” 具有模糊外生殖器的新生儿常常让医生和父母都感到意外，有时被描述为一种内分泌紧急情况，存在性别认定问题。诸如 “两性畸形”“雌雄同体” 和 “假两性畸形” 等术语既过时又容易混淆，许多泌尿科医生担心这些令人困惑的术语可能会被一些受影响的家庭视为带有贬义。针对对过时和有争议术语的担忧，2005年举行的芝加哥共识会议推荐了基于 “性发育障碍”（DSD）这一总括术语的新术语。DSD 这个术语有一个全面的定义，包括出生时发现的任何与染色体或性腺相关的生殖器异常问题。核型用作定义 DSD 分类的前缀。性发育障碍罕见且复杂。对性发育障碍患者的最佳管理必须个体化且多学科化，要考虑到所有方面，包括心理护理以及关于手术类型和时机等替代方案的充分告知。尽管还需要进一步研究以确认适合个体性发育障碍患者的指南和建议，但本文试图为性发育障碍的新分类法、临床评估以及医学、外科和心理管理提供一个平衡的视角。
