Department of Pediatrics, Medical College of Georgia, Augusta, Georgia, USA.
Curr Opin Endocrinol Diabetes Obes. 2012 Feb;19(1):28-32. doi: 10.1097/MED.0b013e32834edacb.
To review the recent information regarding disorders of sex development (DSD) which contribute to, as well as highlight, the need for greater understanding of genetic mutations and the dire need for specific outcome information.
New information is primarily related to the identification of genetic mutations and other gene variations that impact reproductive system development. These new data add to the increasingly complex list of genes and the multigenetic effects involved in DSD. Several reviews outline the approach to diagnosis and management of the patient with DSD and the importance of a multidisciplinary team. These reviews continue to demonstrate the lack of specific guidelines for complex DSD patients for whom sex assignment is problematic.
Although genetic research continues to define new and multigenetic factors involved in the development of DSD, this review of the medical literature also underscores the fact that scientific understanding remains inadequate in many areas of DSD to provide solid guidelines for approaching the more controversial questions in the DSD patient. Accordingly, the need for larger, outcome studies using subjects with verified diagnoses are needed. Optimally, these studies would account for potentially confounding differences in genetic, social, and psychological factors to help answer the pressing question facing every clinician dealing with DSD patients - what is the relationship between medical decision-making (such as sex assignment and genital surgery) and future quality of life and adaptation.
综述与性别发育障碍（DSD）相关的最新信息，这些信息有助于更好地理解基因突变，并迫切需要特定的结果信息。
新信息主要与生殖系统发育相关的基因突变和其他基因变异的鉴定有关。这些新数据增加了涉及 DSD 的基因和多基因效应的日益复杂的列表。有几篇综述概述了 DSD 患者的诊断和管理方法，以及多学科团队的重要性。这些综述继续表明，对于那些性别分配存在问题的复杂 DSD 患者，缺乏特定的指导方针。
尽管遗传研究继续定义 DSD 发展中涉及的新的多基因因素，但对医学文献的回顾也强调了这样一个事实，即在 DSD 的许多领域，科学理解仍然不足，无法为更具争议性的 DSD 患者问题提供坚实的指导方针。因此，需要使用经过验证诊断的受试者进行更大规模的、基于结果的研究。理想情况下，这些研究将考虑到遗传、社会和心理因素中潜在的混杂差异，以帮助回答每位处理 DSD 患者的临床医生所面临的紧迫问题——医学决策（如性别分配和生殖器手术）与未来的生活质量和适应之间的关系是什么。
