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