Genetic link with human male infertility identified

A genetic trait formerly linked to some cases of female infertility is also linked to some male infertility, according to new research from UCL Institute of Child Health scientists working with the Institut Pasteur in Paris. One in seven couples worldwide has difficulty conceiving a child, and male infertility is thought to account for nearly half of those cases. Although the cause of male infertility is often unknown, scientists have now discovered a genetic alteration that disrupts sperm production in otherwise healthy men. The research, published in the American Journal of Human Genetics , provides new insight into one cause of male infertility. Dr Ken McElreavey and Dr Anu Bashamboo from the Pasteur Institute in France and Dr John Achermann, a Wellcome Trust Senior Fellow from the UCL Institute of Child Health examined whether the NR5A1 gene might be involved in some cases of male infertility. '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,' explains one of the study authors. The NR5A1 gene codes for a key protein called steroidogenic factor 1 that regulates fetal, prepubertal and adult sex development.