Photo Acknowledgement: Paul Crock

DSD/ CAH Subcommittee

Committee Members (in alphabetical order):

  • Jennifer Batch  (QLD)
  • Louise Conwell  (QLD)
  • Chloe Hanna (VIC)
  • Natasha Heather (NZ)
  • Jacky Hewitt  (VIC)
  • Kristen Neville  (NSW)
  • Michele O’Connell (VIC) (Co-Chair)
  • Alexia Peña (SA)
  • Vinutha Shetty (WA)
  • Shubha Srinivasan (NSW) (Co-Chair)
  • Esko Wiltshire (NZ)
  • SCIENTISTS
  • Ronda Greaves  (VIC)
  • Andrew Sinclair  (VIC)
  • Vince Harley  (VIC)
  • Peter Koopman  (QLD)

Information about the Committee

The DSD Subcommittee continues the work of the CAH Working Group which had, as its main purpose, strong advocacy for the addition of CAH to the list of conditions funded for newborn screening in all states of Australia. In addition, the group will now widen its frame of reference to include:

  • the development of resources and policies related to the management of other forms of DSD (including prenatal treatment for CAH)
  • facilitation and coordination of multi-centre research projects proposed by members of APEG or requested by other researches and approved by APEG Council.

Meetings

Meetings are held via teleconference every couple of months.

How to Join / Contact the Committee

Calls for Expressions of Interest (EOI) are sent every 2nd year to all APEG members (in ‘even’ numbered years) shortly after the AGM.  Members are invited to submit their EOI at this time and all applications will be reviewed by APEG Council.  The subcommittee is to have no more than 12 members, and the aim is to ensure that no more than 1 person from a hospital is on the subcommittee and each state is well represented.

Genetic Testing

Genetic testing for DSD without known cause is available on a research basis at the Murdoch Childrens Research Institute in Melbourne.

Patients who are eligible include those with:

  • 46 XY karyotype and female phenotype or under-virilisation including perineal hypospadias
  • 46 XX karyotype with testes
  • 46 XY karyotype and testicular regression syndrome (anorchia)
  • Ovotesticular DSD
  • Additional DSD patients including those with MRKH/Mullerian agenesis, POI

Exclusion criteria are patients with known causes of DSD, such as sex chromosome aneuploidy (Turner, Klinefelter), confirmed androgen insensitivity, enzyme deficiency or congenital adrenal hyperplasia.

Please email andrew.sinclair@mcri.edu.au for more information and to obtain consent forms.