Early diagnosis improves the quality of life among women with POIPrimary ovarian insufficiency (POI) refers to a condition where ovaries stop working prematurely. It is a rare disorder whose cause often remains unknown. If untreated, it results in declined quality of life and a significantly increased risk of, for example, osteoporosis. Our research team is exploring the genetic bacground of POI in order to facilitate a timely diagnosis and development of new treatment methods.
Text: Venla Kurra
Editing: Viestintätoimisto Jokiranta Oy
For Finnish women, menopause typically begins at around the age of 51 when they stop menstruating. However, for some women, the ovaries stop working prematurely already before they turn 40. According to research, about one per cent of women suffer from primary ovarian insufficiency (POI), so it is a disorder that affects quite a number of Finnish women.
POI has a considerable immediate impact on women’s quality of life through menopause-related symptoms and reduced reproductive potential. The disorder is also linked with several other adverse and long-term effects on health. In comparison to the general female population, women with POI have an increased risk of cardiovascular diseases and osteoporosis and, moreover, a shortened expected lifespan. An early POI diagnosis allows for the timely initiation of estrogen replacement treatment, which will significantly impove the patients’ quality of life and long-term prognosis.
Cause of disease often remains unkown
Possible causes for POI include, for example, different autoimmune processes or surgical operations, such as ovariectomy (ovary removal surgery) for medical reasons. The ultimate cause and genetic etiology, however, remain unresolved in more than one half of the cases.
Genetic factors play a major role in the development of POI. Near relatives of POI patients are known to have an elevated risk of POI, as compared to the general female population. The most common underlying genetic causes include various sex chromosome abnormalities. The most common of these is Turner syndrome, in which a woman is missing one X chromosome. Being a carrier of the FMR1 gene premutation, which is associated with fragile X syndrome, may also predispose one to the development of POI. Several single gene mutations, for example, in the FSH receptor gene or the AIRE gene, which is associated with an autoimmune disease known as APECED, have also been identified as underlying factors of POI.
Better understanding of genetic factors
As a result of their unique population history, which has developed in isolation over a long period of time, the Finns provide an excellent target population for the research of rare gene variants associated with different multifactorial diseases. Launched in 2017, the FinnGen research project aims to increase our understanding about the underlying causes of diseases in order to advance the diagnostics, prevention and treatment of these diseases. The research utilises the sample collections of Finnish biobanks, and combines the genotype data with register data available in various health care registers.
The goal of our currently ongoing POI research is to explore the genetic background of patients included in FinnGen and previous POI studies in Finland and, thereby, add to the knowledge of genetic factors underlying POI. Experts in different fields from Finnish universities and university hospitals are engaged in our research.
Through improved understanding of the genetic background of POI, we will also gain additional knowledge of the biological mechanisms behind POI. Research-based knowledge will facilitate timely diagnoses and advance the development of new treatments.
Venla Kurra, M.D., Ph.D. earned her doctoral degree from the University of Tampere in 2022. For her thesis, she used animal modelling to study which mechamisms could explain the effects of hyperuricemia (elevated uric acid level in blood) on cardiovascular diseases and chronic kidney disease. Kurra is a specialist in Obstetrics and Gynaecology as well as in Clinical genetics, and is currently working as a clinical geneticist and as a clinical teacher at the University of Tampere. Moreover, she is the expert secretary of the women's health group of the Finngen research project.