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Researchers explain the science of sex

Research News
Thursday, October 17, 2013 - 12:21pm

It's one of the most common inherited conditions that until recently was shrouded in secrecy and sometimes shame, but researchers hope a new community resource will help improve understanding of Disorders of Sexual Development (DSD).

DSD and other variations of sexual development occur when a person's development doesn't follow the typical male or female pathway.

Variations of sexual development are estimated to affect 1 in 4500 live births in cases of genital ambiguity, while misplacement of the urethral opening affects as many as 1 in 250 boys.

A team of researchers from The University of Queensland (UQ), Prince Henry's Institute and the Institute has established a website to overcome misconceptions about sexual development by improving awareness and providing up-to-date scientific information.

Professor Peter Koopman, from UQ's Institute for Molecular Bioscience in Brisbane, said the team developed the resource to share findings from their research into the genes involved in typical and atypical sexual development.

"We saw a gap in the information available, particularly in regards to the science behind sex development, and want to ensure that knowledge arising from our discoveries reaches those who need it most - people with atypical sexual development and parents of newborns diagnosed with a DSD," Professor Koopman said.

Professor Andrew Sinclair from Murdoch Children's said the team wanted to create an accessible platform to explain the genetics and biology behind sexual development and its variations to a broad audience.

"The resource we have developed provides accurate information to help people understand the molecular basis of typical sex development and how changes to this pathway can result in various types of DSDs," Professor Sinclair said.

Professor Vincent Harley at Prince Henry's Institute in Melbourne said the website offered a much-needed scientific perspective to complement the valuable patient support and advocacy offered by community organisations.

"We hope that improving understanding and awareness will assist the wider community to better understand DSDs and the needs of those affected," Professor Harley said.

While atypical sex development is not an illness, the use of the term 'Disorder of Sexual Development' reflects the common need for medical involvement due to complications.

Many of those affected prefer the term 'intersex', placing the condition on the broad spectrum of human sexual development.

Dr Phoebe Hart, a documentary maker who produced a film detailing her experiences as an intersex person, said the resource would reduce the need for those affected to become genetic experts to understand their complicated condition.

"Resources such as this website are valuable because they give people information and information is power," Dr Hart said.

"It might help with the way people discuss their condition, decide on treatments and hopefully helps to generally destigmatise intersex people.

"This condition is biological - it's in our genes so it's not something people choose, it's how we are born."

The website can be accessed at

This website has been developed as part of the Research Program in Disorders of Sex Development funded by the National Health & Medical Research Council.