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

Abstract

BackgroundTo 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.ResultsA 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.ConclusionDSD 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.

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool

“…Unfortunately, more than a decade after the 2006 Consensus statement which highlighted the importance of multidisciplinary care [1], many DSD teams still do not offer universal comprehensive services, and often lack, in particular, behavioral health providers [18, 19]. Barriers to inclusion of behavioral health in DSD comprehensive care have not been delineated but likely include lack of access to behavioral health providers (with DSD expertise, especially), inadequate funding models for multidisciplinary care [20], and/or the financial and stigma-related barriers found in rural or remote resource-poor communities [21, 22].…”

Methodological Issues for Psychological Evaluation across the Lifespan of Individuals with a Difference/Disorder of Sex Development

“…However, even though it seems that most primary care centres include this subspecialty as part of the MDT [Pasterski et al, 2010b;Kyriakou et al, 2016], one study of practices across Europe found that the majority of families were not taking up the offer of psychological support [Pasterski et al, 2010b]. One interpretation of this finding is that patients and families may associate psychological support with mental illness and may have found the prospect stigmatizing.…”

Exploring stakeholder experiences of interprofessional teamwork in sex development outpatient clinics

“…While there is agreement that DSD care requires an experienced interprofessional team (Hughes et al, 2006, p.555), what constitutes an experienced team and how this is differentiated from other types of working is unclear. While the professional composition of the team is described elsewhere (Gomez-Lobo, 2014; Streuli, Köhler, Werner-Rosen, & Mitchell, 2012), variation exists globally (Kyriakou et al, 2016). An online study examined the status of the consensus statement implementation across Europe (Pasterski, Prentice, & Hughes, 2010).…”