Ahmed, SF;
Achermann, JC;
Arl, W;
Balen, AH;
Conway, G;
Edwards, ZL;
Elford, S;
... Willis, D; + view all
(2011)
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
Clinical Endocrinology
, 75
(1)
12 - 26.
10.1111/j.1365-2265.2011.04076.x.
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Abstract
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.
Type: | Article |
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Title: | UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.1111/j.1365-2265.2011.04076.x |
Publisher version: | http://dx.doi.org/10.1111/j.1365-2265.2011.04076.x |
Language: | English |
Additional information: | © 2011 Blackwell Publishing Ltd. Re-use of this article is permitted in accordance with the Terms and Conditions set out at http://wileyonlinelibrary.com/onlineopen# OnlineOpen_Terms |
Keywords: | ANDROGEN INSENSITIVITY SYNDROME, ANTI-MULLERIAN HORMONE, AMBIGUOUS GENITALIA, DEVELOPMENT DSD, INTERSEX DISORDERS, TESTOSTERONE, MANAGEMENT, ANOMALIES, HYPOSPADIAS, IDENTIFICATION |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
URI: | https://discovery.ucl.ac.uk/id/eprint/1305839 |
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