Current models of care for disorders of sex development – results from an International survey of specialist centres

Kyriakou, A. et al. (2016) Current models of care for disorders of sex development – results from an International survey of specialist centres. Orphanet Journal of Rare Diseases, 11, 155. (doi: 10.1186/s13023-016-0534-8) (PMID:27871307) (PMCID:PMC5117601)

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Background To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. Results A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries. The paediatric specialists routinely involved in the initial evaluation of a newborn included: endocrinologist (99 %), surgeon/urologist (95 %), radiologist (93 %), neonatologist (91 %), clinical geneticist (81 %) and clinical psychologist (69 %). A team consisting of paediatric specialists in endocrinology, surgery/urology, clinical psychology, and nursing was only possible in 31 (41 %) centres. Of the 75 centres, 26 (35 %) kept only a local DSD registry and 40 (53 %) shared their data in a multicentre DSD registry. Attendance in local, national and international DSD-related educational programs was reported by 69, 78 and 84 % clinicians, respectively. Participation in audits/quality improvement exercises in DSD care was reported by 14 (19 %) centres. In addition to complex biochemistry and molecular genetic investigations, 40 clinicians (51 %) also had access to next generation sequencing. A genetic test was reported to be more preferable than biochemical tests for diagnosing 5-alpha reductase deficiency and 17-beta hydroxysteroid dehydrogenase 3 deficiency by 50 and 55 % clinicians, respectively. Conclusion: DSD centres report a high level of interaction at an international level, have access to specialist staff and are increasingly relying on molecular genetics for routine diagnostics. The quality of care provided by these centres locally requires further exploration.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Kyriakou, Dr Andreas and Bryce, Dr Jillian and Ahmed, Professor Syed Faisal
Authors: Kyriakou, A., Dessens, A., Bryce, J., Iotova, V., Juul, A., Krawczynski, M., Nordenskjöld, A., Rozas, M., Sanders, C., Hiort, O., and Ahmed, S. F.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Orphanet Journal of Rare Diseases
Publisher:BioMed Central
ISSN (Online):1750-1172
Copyright Holders:Copyright © 2016 The Authors
First Published:First published in Orphanet Journal of Rare Diseases 11:155
Publisher Policy:Reproduced under a Creative Commons License

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
557261The International DSD Network (I-DSD)Syed Faisal AhmedMedical Research Council (MRC)G1100236SCHOOL OF MEDICINE, DENTISTRY & NURSING