Extra gene copy stops boys from becoming boys

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Melbourne, July 5 : A new study from Prince Henry's Institute in Melbourne has revealed that an extra copy of gene DAX1, which regulates sexual development might stop boys from being boys.

One in 4500 babies is born with ambiguous or incomplete genital development, making it difficult for parents and doctors to identify whether the child should be raised as a boy or a girl.

Lead researcher Louisa Ludbrook has revealed that an extra copy of DAX1 in male babies blocks the development of the testicles entirely, which is responsible for some cases of disorder of sexual development (DSD).

The team discovered that increased production of DAX1 can block the production of another gene SOX9 - which is important in the development of testicles.

When SOX9 production reaches a certain level testicles rather than ovaries develop.

Ludbrook believes that the new study would help in earlier diagnosis and management DSD.

"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," News.com.au quoted Ludbrook, as saying.

"And studying these kinds of conditions also helps us understand the broad sweep of human sexual development," she added.

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

ANI

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