英国关于对疑似性发育障碍的婴儿或青少年进行初步评估的指南。
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
作者信息
Ahmed S Faisal, Achermann John C, Arlt Wiebke, Balen Adam H, Conway Gerry, Edwards Zoe L, Elford Sue, Hughes Ieuan A, Izatt Louise, Krone Nils, Miles Harriet L, O'Toole Stuart, Perry Les, Sanders Caroline, Simmonds Margaret, Wallace A Michael, Watt Andrew, Willis Debbie
机构信息
Royal Hospital for Sick Children, University of Glasgow, GlasgowDevelopmental Endocrinology, UCL Institute of Child Health, University College London, LondonInstitute of Biomedical Research, University of Birmingham, BirminghamLeeds Centre for Reproductive Medicine, Leeds Teaching Hospitals, LeedsDepartment of Endocrinology, University College London Hospitals, LondonAlder Hey Children's NHS Foundation Trust, LiverpoolCLIMB CAH Support GroupDepartment of Paediatrics, University of Cambridge, CambridgeClinical Genetics Dept, Guys Hospital, LondonDept Clinical Biochemistry, Barts and the London NHS Trust, LondonDepartment Paediatric Urology, Alder Hey NHS Foundation Trust, LiverpoolAIS Support GroupDepartment of Biochemistry, Glasgow Royal Infirmary, Glasgow, UKSociety for Endocrinology, Bristol, UK.
出版信息
Clin Endocrinol (Oxf). 2011 Jul;75(1):12-26. doi: 10.1111/j.1365-2265.2011.04076.x.
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 team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD team acts as the first point of contact. 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. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents are as fully informed as possible and have access to specialist psychological support. 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.
任何疑似患有性发育障碍（DSD）的儿童或青少年都必须由经验丰富、充分了解与DSD相关一系列病症的临床医生进行评估。如有任何疑问，应与地区团队讨论该病例。在大多数情况下，尤其是新生儿病例，地区性DSD团队中的儿科内分泌学家是首要联系人。应与父母及受影响的青少年讨论DSD的潜在病理生理学以及可进行检测的优缺点，并及时进行检测。该临床医生应是在DSD管理方面经验丰富的多学科团队的一员，并应确保受影响的个人和父母尽可能充分地了解情况，并能获得专业的心理支持。最后，在罕见病领域，临床医生必须通过国内和国际临床及研究合作与他人分享经验。
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