Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)
IMPE Abstracts (2023) 96 P146

IMPE2023 Poster Presentations Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (19 abstracts)

Survey of Australasian clinicians to assess current care provision models and the use of genetic testing in Differences of Sex Development (DSD)

Gabby Atlas 1,2,3,4 , Tiong Tan 2,3,1,5 , Andrew Sinclair 2,3 & Michele O'Connell 1,2,3


1Royal Children's Hospital, Melbourne, Australia. 2Murdoch Children's Research Institute, Melbourne, Australia. 3University of Melbourne, Melbourne, Australia. 4Western Health, Melbourne, Australia. 5Victorian Clinical Genetics Service, Melbourne, Australia


Pathways of care for management of DSD are evolving, with poorly described models of care and limited evidence-based guidelines. This study aimed to explore current care models for individuals with DSD in Australasia, to identify perceived gaps/strengths/barriers in current practice and explore the diagnostic approach of clinicians, particularly in regards to genetic testing. An anonymous REDCap online survey was undertaken, recruiting clinicians involved in the diagnosis/management of DSD. The survey questions included demographics, terminology, perceptions of changes/barriers, benefits/downsides to genetic testing, the DSD multidisciplinary team (MDT), availability of genetics and opinions on the role/utility of genetic testing in DSD. Results are reported as a percentage of respondents for that question, with branching logic used. There were 80 partial and 62 complete responses to the survey, from all states and territories of Australia/New Zealand. 45/66(68%) respondents had an established MDT at their centre, with only 8/45(18%) having psychology involved. 50/66(76%) identified changes to DSD diagnosis/management over the past 5 years, predominantly an increase in genetic testing(50%), introduction of an MDT(48%) and decrease in surgical intervention(40%). The benefit in having a genetic diagnosis in DSD was almost unanimous (97%) with 47% of respondents reporting barriers in genetic testing. Respondents perceived genetic testing in DSD to be underutilised (mean 37 on a sliding scale, with 0=underutilised and 100=overutilised). Approaches to genetic testing when faced with four different clinical scenarios varied across respondents (Table 1). Responses to the survey identifies gaps and barriers to DSD care across Australasia, in particular the lack of psychosocial supports (an internationally recognised standard of care). There is a discrepancy between the perceived benefit of genetic testing and application to clinical care. Lack of consensus in management highlights the need for further education, nationwide clinical guidelines and improving access to both MDT care and genetic testing in DSD.

Table 1:
Chromosomal testing (karyotype/microarray) Endocrinology Urology Genetics (clinical gen/counsellor) Other teams Further genomic testing if XY and normal biochem?
Scenario 1: Proximal hypospadias 24/61 (39%) 17/30 (57%) 1/11 (9%) 2/9 (22%) 4/10(40%) 6/24 (25%)
Scenario 2: Micropenis, bifid scrotum 50/61 (82%) 27/30 (90%) 1/11 (9%) 4/9 (44%) 8/10 (80%) 24/50 (48%)
Scenario 3: Primary amenorrhoea, uterus,46,XY 40/61 (66%)

Other: gyaecology, general paed, nursing, neonatology

Volume 96

IMPE 2023

Buenos Aires, Argentina
04 Mar 2023 - 07 Mar 2023

International Meeting in Pediatric Endocrinology 

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