Rawal Amar Y, Austin Paul F
Division of Urological Surgery, Washington University in Saint Louis, Saint Louis, MO, USA.
PGY-3, Division of Urological Surgery, Washington University School of Medicine, Saint Louis, MO, USA.
Curr Urol Rep. 2015 Dec;16(12):83. doi: 10.1007/s11934-015-0556-0.
Our understanding of disorders of sexual differentiation (DSD) has evolved from aberrations of human genital development to a broad group of complex disorders of etiological and functional significance. The unique challenge of DSD conditions is that they create a cause for significant angst and concern for both parents and physician, as they frequently lead to questions with regards to gender assignment, surgically corrective options, long-term outlook regarding gender identity, and reproductive potential. To further add to the burden, many patients who present with genital abnormalities do not have a clear explanation as to the underlying basis of their disorder. This review looks at DSD from a pediatric urology point of view with emphasis on evaluation, diagnosis, and algorithm for work-up. We also discuss novel genetic analysis techniques and their value in diagnosis. Overall, this is an all-encompassing review on a diagnostic approach to DSD, with inclusion of recent developments and controversies, which will benefit urologists and other physicians alike.
我们对性分化障碍（DSD）的理解已从人类生殖器发育异常发展为一组具有病因学和功能意义的广泛复杂疾病。DSD病症的独特挑战在于，它们给父母和医生都带来了极大的焦虑和担忧，因为它们常常引发关于性别指定、手术矫正方案、性别认同的长期前景以及生殖潜能等问题。更添负担的是，许多出现生殖器异常的患者对其病症的潜在病因并无明确解释。本综述从儿科泌尿外科的角度审视DSD，重点在于评估、诊断及检查流程。我们还讨论了新型基因分析技术及其在诊断中的价值。总体而言，这是一篇关于DSD诊断方法的全面综述，涵盖了近期进展和争议，将使泌尿外科医生及其他医生均受益。
