Differences of Sex Development

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A word on Nomenclature

Please CLICK HERE for a document outlining considerations for use of terminology.

Professional Societies:

• Urological Society of Australia and New Zealand.
• RANZCOG
• International Classification of Pediatric Endocrine Diagnoses (ICPED) – a comprehensive diagnostic list for endocrine diagnoses (APEG associated worldwide collaboration). Scroll down page to individual chapters on each diagnostic group.

Support Groups:

• CAH Support Group (Australia)
• IPSA (Intersex Peer Support Australia   Previously AISSG – Androgen Insensitivity Syndrome Support Group (Australia)
• CAH Living as Neighbours (CLAN)
• MAGIC Foundation (USA) – Growth support group with CAH section
• CAH Support Group (USA)
• Climb Congenital Adrenal Hyperplasia UK Support Group
• AIS/DSD Support Group (USA)
• Accord Alliance
• IHRA Intersex Human Rights Australia (previously OII Australia)
• Turner Syndrome Association of Australia
• CARES Foundation
• Hormone Health Network (USA)
• Australian X & Y Spectrum Support  (XXY, Klinefelters)
• BEECHAC group  (bladder exstrophy and hypospadias etc)
• Daisy Network (premature ovarian insufficiency)
• MRKH Australia (Previously Sisters for Love MRKH Foundation)

General DSD Resources for Families and Health Professionals:

• DSDfamilies
• DSDteens
• DSD Genetics
• Health of people with intersex variations – Victorian Department of Health Resource (March 2019)
• DSD Guideline: New Zealand, Starship Hospital (October 2020)

Other resources and links:

• Hormones and Me Booklet Series.  CLICK HERE to find the books listed below
  • Congenital Adrenal Hyperplasia (CAH)
  • Management of Emergency or Stress Situations
• EndocrineWeb.com Adrenal Resources
• Hydrocortisone Injection Instruction Leaflet
• CONGENITAL ADRENAL HYPERPLASIA: A Parents’ Guide (Paperback) by C. Y. Hsu (Author), Scott A. Rivkees (Author) 2005;(ISBN10 1420806491; ISBN13 9781420806496)
• RCH Department of Gynaecology
• Living with Androgen Insensitivity Syndrome (UK)
• VIC Gov Neonatal Handbook – hypospadias
• Children’s Hospital Colorado:  X&Y chromosome variations
• TSSG UK (Turners Syndrome Support Society)
• Consensus Statement: Global Disorders of Sex Development.  Update since 2006: Perceptions,Approach and Care (Hormone Research in Paediatrics Jan 2016)
• Anorchidism support group (UK)
• Anorchia information (USA – Genetic and rare disease information centre)

Tests:

• CAH Gene tests  (Mater Pathology)
• CAH Blood Spot testing for 17OHP  (Mater Pathology)
• Androgen Insensitivity gene test (Androgen Receptor)
• Genetic testing for DSD without known cause is available on a research basis at the Murdoch Children’s Research Institute Molecular Development Group 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, POIExclusion 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.

Last comprehensive update completed on 25 May 2018.