Gene mutations help predict Premature Ovarian Failure

Andrew Shelling

Premature ovarian failure (POF) is defined as menopause occurring in women under the age of 40.  POF is a common disorder, and occurs in about 1 – 2% of women, in some as early as their teens or twenties.  This devastating condition can mean a lifetime of infertility for many women, if they have not already had children. The cause of most cases of POF is unknown, although there may be a predisposition to POF in some families. 

Dr Shelling recently discovered mutations in two genes in women with POF – in the inhibin alpha gene and the FOXL2 gene.  This important discovery suggests that there is an inherited defective gene responsible for POF.  This will allow women at risk to be tested for POF in the future – and enable them to plan to have their families earlier.

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