Instituto Bernabeu has created IBgen POF, the most complete genetic study to diagnose ovarian failure and offer a personalised reproductive advise

Continuous research and the desire to improve the prognosis of those who trust the Instituto Bernabeu has allowed the clinic to develop the most complete genetic study of premature ovarian failure (POF). Premature ovarian failure or insufficiency causes partial or total cessation of ovary function at an early age. The study makes possible to diagnose it through massive sequencing techniques. This is a powerful diagnostic tool when indicating personalized fertigenetic advice.

1% of women under 40 years of age suffer from early menopause. This entails the absence of the period and a hormonal alteration that triggers disorders affecting life quality, causing hot flashes, insomnia, mood swings, vaginal dryness and lack of sexual desire. Therefore, this becomes a cause of infertility in women, who in order to have children, need to resort to assisted reproductive techniques. Until now, in order to know if there was a genetic origin in premature ovarian failure, it was necessary to make a karyotype and rule out Fragile X Syndrome. Between 20 and 25% of causes for early ovarian failure can be chromosomal, genetic, autoimmune disorders or external factors. But the rest may be due to an undiagnosed genetic cause.

Thanks to the continuous research and the study of the new genes involved in this pathology, such as those involved in the development of the ovarian follicle, cell division or DNA repair, the Department of Molecular Biology and Genetics of the Instituto Bernabeu, has developed the IBgen POF analysis. Thanks to massive sequencing or Next-generation sequencing (NGS), is possible to study variants of 512 genes involved in early ovarian failure. This is also the most complete study for genetic causes of this early menopause and gives the opportunity to offer an individualized reproductive diagnosis and to plan the patient’s reproductive life, either by early childbearing or by freezing oocytes.

It’s common for premature ovarian failure to be hereditary and be suffered by women in the family, hence the study allows detecting it and making reproductive decisions.

The IBgen POF study is supported by the studies carried out by the low ovarian response research group led by the medical co-director of the Instituto Bernabeu, Dr Ll. Aparicio and the Low Ovarian Reserve and Ovarian Failure Unit.