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

• Published in: Orphanet journal of rare diseases 2016-11, Vol.11 (1), p.155-155, Article 155
• Main Authors: Kyriakou, Andreas, Dessens, Arianne, Bryce, Jillian, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline, Hiort, Olaf, Ahmed, S Faisal
• Format: Article
• Language: English
• Subjects: Care and treatment; Child; Child Health Services; Clinical networks; Data Collection; Delivery of Health Care; Disorders of Sex Development; Female; Global Health; Humans; Internationality; Male; Medical care; Medical research; Medicin och hälsovetenskap; Multidisciplinary team; Patient Care Team; Physician-Patient Relations; Quality management; Quality of Life; Rare diseases; Registries; Sexual disorders
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-016-0534-8

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. 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. 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.