General information

A wealth of general information can be found on the internet, for example at sites such as Wikipedia.

Textbooks dealing with human embryonic development or endocrinology are also useful references:

Larsen’s Human Embryology, 4th edition (Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H., 2009. New York; Edinburgh: Churchill Livingstone) has a comprehensive section on urogenital development, including disorders arising from misregulation of the processes involved.

Endocrinology, 2-volume set, 6th ed. (J. Larry Jameson, MD, PhD and Leslie J. De Groot, MD, 2010, Saunders, ISBN 978-1-4160-5583-9, US$399) has updated coverage of DSD.

Williams Textbook of Endocrinology, 12th Edition (Shlomo Melmed, Kenneth S. Polonsky, P. Reed Larsen, and Henry M. Kronenberg. 2012. Saunders, ISBN: 978-1-4377-0324-5, US$199) has an authoritative chapter on DSD by John Achermann and Ieuan Hughes.

 

Medical information (diagnosis, clinical management)

Diseases Database

The Diseases Database is a cross-referenced index of human disease, medications, symptoms, signs, abnormal investigation findings etc. This site provides a medical textbook-like index and search portal.

OMIM (Online Mendelian Inheritance in Man)

This is a comprehensive catalogue of human genetic disorders, disease-associated genes and disease-causing mutations. Begun in the 1960s by human geneticist Victor McKusick of Johns Hopkins University, it is now professionally maintained, regularly updated, and curated by the National Centre for Biotechnology Information (NCBI) in the USA. It is a standard professional reference tool for human molecular geneticists. It is copiously referenced and linked to key genome repositories.

The Information for healthcare professionals and scientists (not yet functional) section of this website also covers the types and genetic causes of DSD in some detail.

 

Patient support and advocacy information

Accord Alliance is an organisation established by the Intersex Society of North America. It 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 is an information and support resource for families with children, teens and young adults who have a DSD.

Organization International Intersex (OII) advocates for the human rights of intersex people, including infants, children and adults. OII also provides peer support and education, and engages with researchers and clinicians. OII contends that, while some intersex variations, (such as CAH) do require medical intervention, most don’t and are not intrinsically disorders. Submissions on health and human rights issues are available for download from their website. 

 > See also: Organization International Intersex Australia

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

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

 

Ethical, legal and human rights information

On the management of differences of sex development: Ethical issues relating to “intersexuality”. Swiss National Advisory Commission on Biomedical Ethics, November 2012, Opinion No. 20/2012. (28-page pdf, 216kb download) discusses terminology, provision of counseling and support, and medical and legal ethics. Although written as a Swiss national policy document, many of its principles transcend national boundaries.

Decision-making principles for the care of infants, children and adolescents with intersex conditions. Department of Health, Victoria, Australia, February 2013. (31-page pdf, 348kb download). This resource describes medical, human rights, ethical and legal principles to be applied to decision-making with the stated aim of safeguarding the best interests of patients.