Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
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DOI：
10.1111/cen.12857
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发表时间：
2016-05-01
影响因子：
3.2
通讯作者：
Willis, Debbie
中科院分区：
文献类型：
--
作者：
Ahmed, S. Faisal;Achermann, John C.;Willis, Debbie
最重要的是，任何怀疑患有性发育障碍（DSD）的儿童或青少年都应由经验丰富的临床医生进行评估，并充分了解与DSD相关的一系列条件。如有疑问，应与区域DSD团队讨论。在大多数情况下，特别是在新生儿的情况下，区域小组内的儿科内分泌学家通常作为第一接触点。这名临床医生应该是一个在DSD管理方面经验丰富的多学科团队的一部分，并应确保受影响的人和父母能够获得专业的心理支持，并全面解决他们的信息需求。应与父母和受影响的年轻人讨论DSD的潜在病理生理学以及可进行的测试的优缺点，并及时进行测试。最后，在罕见疾病领域，临床医生必须通过国内和国际临床和研究合作与他人分享经验。
It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.