Australian scientists believe they have made a major breakthrough to one day proving there is a genetic link to being transgender.

Scientists from Melbourne’s Hudson Institute took DNA samples from 724 people over 15 years, 342 of them were men, and 380 transwomen (male-to-female transgender people).

SBS News

Focusing on 12 genes that produce and process sex hormones testosterone and estrogen, the study showed there were "small but significant differences in the genetic makeup” between men and transwomen.

“We think that when it comes to gender identity - that is what you think you're a male or a female - that the sex hormones have a role,” lead researcher Professor Vincent Harley told SBS News.

“Based on these variants that are over-represented in trans-people, we would suggest that the masculinising pathways are reduced and the de-feminising pathways are also reduced.”

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Biological basis for gender dysphoria

The results reveal a potential biological basis for gender dysphoria, the stress felt by someone who identifies with a sex they weren't assigned at birth. It is estimated to affect anywhere between 0.1 to one per cent of Australians.

A possible role, but far from proven - with Professor Harley saying this study is being seen as that all-important first step.

"We know so little about what makes us feel male or female and our gender identity,” he explained.

“We don't know what part of the brain participates; you know what region in the brain or what processes it participates yet. So we're a long way away from that.”

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Increasing social acceptance and quashing stigmas

Forty-seven-year-old Fran Monro, a mental health worker from Melbourne, was one of the participants of the study.

She told SBS News she began to have gender dysphoria at the age of 15, but was bullied and ostracised by her family and rural community.

“I found it extremely difficult to accept myself, in fact impossible, to accept myself, and my own nature,” Ms Monro said.

“One of the great tragedies of being trans is experiencing rejection from family.”

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Ms Monro hopes the results will help change social attitudes towards transgender people.

“If this is able to help anyone out there to feel greater self-acceptance, or greater acceptance from their friends, their family, their community, then it’s a really good and hopeful thing,” she said.

And while researchers are lauding their results as a potential breakthrough for science, they also want the study to break those stigmas.

“I hope it helps to reduce the distress felt by trans-people. That's my hope,” Professor Harley said.

“But it's primarily to raise the public awareness that it is a biological condition.”

SBS News

Results cautiously welcomed

Sally Goldner from Transgender Victoria says she “overwhelmingly welcomes” the results, but has warned of possible limitations

“It does say to people, ‘hey look this isn’t any choice or accident or anything else, it’s just part of human health’, which is helpful,” she told SBS News.

“(But) someone might still be trans, but may not fit a particular DNA pattern. No medical or genetical (sic) test is perfect. And so everyone's experience is still valid.”