Australian research offers hope for children of uncertain sex

Professor Peter Koopman, from UQ's Institute for Molecular Bioscience (IMB) has received the GlaxoSmithKline Australia Award for Research Excellence that offers hope to children born with sexually ambiguous genitalia and other sexual development conditions. 

“It is usually the first question new parents are asked – is it a boy or a girl?" Professor Koopman said. 

"But when it is not possible to determine a baby's sex it is upsetting for families and raises questions about whether to assign a gender immediately or wait until a child gets older. 

“These conditions are common, almost always traumatic for the families involved and require significant healthcare resources through corrective surgery, hormone therapy, psychological support and other related treatments.” 

Professor Koopman is the second IMB researcher to receive the prestigious Award in the last three years, after Professor Melissa Little's win in 2005 for her contribution to the development of new treatments for renal disease. 

Following his discovery of SRY, a gene which sets an embryo down the pathway of male development, Professor Koopman has been working to understand the complex developmental networks within the gonads that tell cells whether to become sperm or eggs. It is believed that these signals going awry may be a trigger for testicular cancer. 

“My work is essentially a study of how testes or ovaries develop in the embryo. The genetic controls that underpin development are complex and the pathway often breaks down, which can result in a broad spectrum of intersex conditions including a child of uncertain sex,” Professor Koopman said. 

Identifying the genes involved in this process and understanding how they work is the first step in understanding what happens when the process breaks down. 

Future challenges for Professor Koopman and his team include searching for other genes important for male sex determination and testis development and learning more about the development of the ovaries. 

Although Professor Koopman was honoured to receive the Award, he said it was other factors that spurred on his research efforts. 

“A major motivator for me is to be involved in work that makes a real difference to people's lives," he said. 

"Research is a painstaking process but the belief that my work will benefit people is what keeps me so passionate about it. It is an honour that these efforts are to be acknowledged by way of such a prestigious award.” 

Recipients of the GlaxoSmithKline Australia Award for Research Excellence receive an honorarium of $50,000 in recognition of their distinguished discoveries in scientific and medical research, which have the potential to lead to significant benefits in human health. 

The Award is regarded as one of the most prestigious within the Australian research community. A requirement of the Award is that the majority of the research is undertaken in Australia.