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英国内分泌学会关于疑似性别发育差异或障碍的初步评估指南(2021 年修订)。

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

机构信息

Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.

Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK.

出版信息

Clin Endocrinol (Oxf). 2021 Dec;95(6):818-840. doi: 10.1111/cen.14528. Epub 2021 Jun 22.

Abstract

It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service will also ensure prompt access to specialist psychology and nursing care. The underlying pathophysiology of DSD and the process of delineating this should be discussed with the parents and affected young person with all diagnostic tests undertaken in a timely fashion. Finally, for rare conditions such as these, it is imperative that clinical experience is shared through national and international clinical and research collaborations.

摘要

至关重要的是,任何疑似性别发育差异或障碍(DSD)的儿童或青少年都应由具有丰富相关疾病知识的经验丰富的临床医生进行评估,并与区域 DSD 服务机构进行讨论。在大多数情况下,该服务机构中的儿科内分泌学家作为第一联系点,但区域多学科服务的参与也将确保能够及时获得专业心理和护理服务。应与父母和受影响的年轻人讨论 DSD 的潜在病理生理学及其界定过程,并及时进行所有诊断测试。最后,对于这些罕见疾病,必须通过国家和国际临床及研究合作来分享临床经验。

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