INTRODUCTION
In 30-40% of cases of male infertility, no associated factor is found. It is believed that at least 15% of cases can be explained by genetic defects. In addition, current genetic diagnostic tests are limited to determining the karyotype, the detection of deletions of the Y chromosome (Azoospermia factor – AZF) and the analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation.
The intention of this study is to determine the existence of previously undescribed genetic variants that justify infertility. After selecting patients who meet the inclusion criteria (infertility of unknown origin), blood samples will be obtained for exome analysis of the DNA obtained. With the results, a genetic diagnostic panel will be created for patients who have ruled out other causes for their infertility.
MATERIALS AND METHODS
Prospective study which will include 100 men who consult for infertility, defined as absence of pregnancy after 1 year of unprotected intercourse, which have been ruled out organic causes, hormonal, have normal karyotype and have been labeled as ¨idiopathic infertility¨. They will complete a demographic questionnaire, as well as the questionnaire of Quality of Life oriented to the infertile patient (FertiQol), and a peripheral blood sample will be taken for genetic analysis.
Pathological gene variants will be assessed from a list of genes, selected from the literature that have been linked to male infertility. The exome sequencing methodology will be used and subsequently the genes included in the list will be filtered and analysed.
Once the laboratory results have been obtained, the patients will be informed of the results, if they have expressed their wish to know them, and finally the results will be published.
RESULTS
The study is currently in the development and research phase.
CONCLUSIONS
The study is currently in the development and research phase.
