Ahmed S F, Bryce J, Hiort O
University of Glasgow, Glasgow, UK.
Endocr Dev. 2014;27:284-92. doi: 10.1159/000363676. Epub 2014 Sep 9.
Differences or disorders of sex development (DSD) are a wide range of relatively rare conditions with diverse pathophysiology that most often present in the newborn or the adolescent. Given their rarity and the need for input from a range of clinical disciplines, the management of the child with a complex form of DSD may be quite complicated, and the situation is worsened by a lack of evidence for many diagnostic and interventional procedures that are undertaken. It is, therefore, not surprising that there will be variation in the management as well as the outcome of patients with this group of conditions. By working as a network of clinical and research centres it is possible that these variations can themselves be better managed and studied. Over the last decade there has been a major shift in the field of rare diseases towards greater collaboration in clinical as well as research activity, and this chapter will summarise these developments.
性发育差异(DSD)是一系列相对罕见的病症,其病理生理机制多样,多见于新生儿或青少年群体。鉴于其罕见性以及需要多临床学科的参与,患有复杂形式DSD的儿童的管理可能相当复杂,而且许多诊断和干预程序缺乏证据,使得情况更加恶化。因此,这类病症患者的管理方式和治疗结果存在差异也就不足为奇了。通过作为临床和研究中心网络开展工作,有可能更好地管理和研究这些差异。在过去十年中,罕见病领域在临床和研究活动方面发生了重大转变,朝着更大程度的合作发展,本章将总结这些进展。