English
World Health Organization (WHO) defines infertility as a failure to achieve pregnancy despite unprotected, regular (3–4 times a week) sexual intercourse during the period of more than 12 months. It is estimated that as many as one in five couples has problems getting pregnant. The scope of this problem in Poland is similar to that in Western countries. Infertility is a complex disease with many causes including anatomic defects, disturbances of spermatogenesis and sex determination, hormone imbalance, immunological disorders and obesity. Approximately 25% of couples with a clinical diagnosis of infertility worldwide remains childless due to unknown causes (idiopathic infertility). It is thought that genetic factors are the basis of many of such cases.
Reproduction is a process necessary for the survival of a species. The human population grows at a rate that will result in the number of 9 billion people in 2050. In the same period, one in five couples may not have children due to infertility, and without any medical help.
World Health Organization (WHO) currently defines infertility as a failure to achieve pregnancy despite unprotected, regular (3–4 times a week) sexual intercourse during the period of more than 12 months. Infertility is considered to be a social disease. It is estimated that 20–25% of couples has problems getting pregnant. The scope of this problem in Poland is similar to that in Western countries.
There are many causes of infertility including anatomic defects, disturbances of spermatogenesis and sex determination, hormone imbalance, immunological disorders and obesity. Approximately 25% of couples with a clinical diagnosis of infertility worldwide remains childless due to unknown causes (idiopathic infertility). It is thought that genetic factors are basis of many of such cases.
Diagnostics of infertility is mainly based on conclusions from a medical interview with patients, physical examination, determination of hormone levels and sperm analysis. Genetic tests such as karyotype testing, detection of microdeletions in the AZF region on the chromosome Y or detection of mutations in the CFTR gene are sometimes included in in the diagnostic process. Genetic testing should be routinely expanded with an analysis of DNA sequences of genes responsible for normal sex determination (such as WT1, SRY, AMH, AMHR, SOX9, FGF9, RSPO1), neuroendocrine control of reproductive processes (such as FSH, FSHR, LH, LHCGR) or for gametogenesis and gamete functions (such as MSH2, MSH6, MLH1, NBN). Next Generation Sequencing guarantees the highest possible reliability of the results.
Genetic testing of infertility causes is useful in, among others, the following situations:
- to make a correct diagnosis if it is not possible to perform a further differential diagnosis based on tests performed so far,
- to optimize personalized treatment, especially based on hormonal treatement,
- to exclude potentially ineffective treatment strategies prior to their use.
Treatment of infertility is a field of medicine that every year is becoming more and more important. Infertility may be a result of many overlapping effects of various DNA changes and other risk factors. Therefore, careful examination of possible genetic basis of infertility and taking into account environmental factors gives the possibility of introducing individually targeted therapy that can be more effective.
