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Clin Endocrinol (Oxf). 2011 Jul;75(1):12-26. doi: 10.1111/j.1365-2265.2011.04076.x.

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.

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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.


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.

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