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Male Infertility Gene Is Discovered that Plays Havoc with Sex Hormones

Daily Mail,  Oct 1, 2010
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A single faulty gene could explain why some men are left infertile, scientists say.

One in seven couples have trouble conceiving, with male infertility accounting for almost half of the cases.

The cause for the condition is not known, but new research suggests a faulty gene that has been identified could play a part in some of the cases.

The NR5A1 gene codes a protein which plays a key role in sexual development, and faults in it are known to led to defects in the sex organs. But its role in infertility had not been studied.

Dr Ken McElreavey, of France's Pasteur Institute, said: 'Many genes are known to be essential for the production of sperm, but there are surprisingly few single gene changes that have been conclusively demonstrated to cause a failure of sperm production in humans.'

His team sequenced the NR5A1 gene in 315 healthy men seeking infertility treatment, all of whom exhibited an unexplained failure to produce sperm. Of these, seven had mutations in NR5A1.

Writing in the American Journal of Human Genetics, Dr Anu Bashamboo said that the mutations affected key reproductive genes, altering the levels of the sex hormones.

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