Medical links

OMIM (Online Mendelian Inheritance in Man): catalogue of human genetic disorders, disease-associated genes and disease-causing mutations.

OMIM is a standard professional reference tool for human molecular genetics. It is copiously referenced and linked to key genome repositories. It is professionally maintained, regularly updated, and curated by the National Centre for Biotechnology Information (NCBI) in the USA.


Support and advocacy group links

Accord Alliance: promotes effective management of DSD, combining advocacy for the rights of those affected with engagement with the medical profession and the research community. Comprehensive guides to understanding and dealing with DSD are available for download from their website. These guides are particularly useful for parents newly becoming familiar with the issues associated with a DSD birth.

dsdfamilies: an information and support resource for families with children, teens and young adults who have a DSD.

Androgen Insensitivity Syndrome 
Support Group (AISSG): provides information and support to young people, adults and families affected by XY-female conditions such as complete and partial Androgen Insensitivity Syndrome. It also supports those affected by 46,XY gonadal dysgenesis), 5-alpha reductase deficiency, Leydig cell hypoplasia, Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, Mullerian dysgenesis and agenesis, vaginal atresia, and other related conditions.

> See also: AISSG Australia

InterConnect: a compassionate community of diverse individuals, families and allies collaborating to promote a better quality of life through connection, support and education.

CAH Support Group: provides support for parents of newly diagnosed children with CAH, ongoing family needs and education, and adults living with CAH.

Turner Syndrome Association of Australia: provides support and information to help deal with the implications of Turner syndrome (45,X DSD), with newsletters, seminars, conferences and regular meetings.

Rare Voices Australia: advocates for those who live with a rare disease. RVA provides a strong common voice to promote for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia.

Organization International Intersex (OII): advocates for the human rights of people with intersex variations, provides peer support and education, and engages with researchers and clinicians. Submissions on health and human rights issues are available for download from this website.

> See also: Intersex Human Rights Australia


Registries and research/clinical network links

I-DSD network: The I-DSD Project supports collaboration between clinicians and researchers in investigation of the conditions associated with DSD through use of the International DSD registry. The main aim of the project is to increase knowledge and understanding of these rare conditions and ultimately improve patient care.

DSDnet: A network of scientists and clinicians as well as people with DSD. The aim is to obtain new knowledge on the biological pathways of sex development in humans, and to provide information on management for those physicians and psychologists caring for people with DSD. Furthermore, it provides a platform for people with DSD, not only for those seeking medical advice, but also about peer support groups, as well as about the societal and cultural issues around DSD.



Last updated: 7 August 2021 PK

Edit history: Author P. Koopman 10/1013; revised 10/2013, 3/2014, 7/2015, 8/2015, 9/2015