Gene ‘copy’ behind people becoming transgender at birth?

July 8th, 2008 - 3:55 pm ICT by IANS  


Sydney, July 8 (IANS) Researchers have stumbled on a vital discovery that could be the silver lining in a rare condition known as disorder of sex development. One out of 4,500 babies is born with ambiguous genital development that makes identification of the child’s gender doubly difficult for parents and doctors - whether the child should be raised as a boy or a girl.

The new finding shows how an extra copy of a gene known as DAX-1, which regulates sexual development, halts the process of the male baby developing a testicle.

It is responsible for the disorder of sex development (DSD), said Louisa Ludbrook who undertook the study at the Prince Henry Institute in Melbourne.

Using cells in culture, researchers found that increasing copies of the gene DAX-1 could block the production of a potent male factor, called SOX9. This factor is important in most animals with testicles.

A common requirement for testicle development, conserved between species as diverse as humans and reptiles, is an increase in production of the gene SOX9.

When SOX9 production reaches a certain level, testicles, rather than ovaries, will develop,” said Vincent Harley, head of the Human Molecular Genetics unit at Prince Henry’s Institute

By knowing exactly the point when development of the testicles is blocked, we can help parents and doctors decide on the best treatment options for these kids, be it hormone therapy or surgery,” says Louisa.

And studying these kinds of conditions also helps us understand the broad sweep of human sexual development,” said Louisa.

The discovery was presented Tuesday at The World Congress on Hypospadias and Disorders of Sex Development in Rome.

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