Apr 13 2024Estonian Research Council Approximately one in seven couples face difficulties conceiving a child naturally. Half of these cases are due to male infertility – either caused by the complete absence or low number of mature sperm. In today's clinical practice, over half of these cases remain unexplained, hindering optimal counseling, treatment, and prevention of potential comorbidities.
Heterogenous genetic causes were identified in ~12% of the analysed patients. Disease-causing variants were detected in 39 genes that regulate spermatogenesis, genital development in utero and/or reproductive endocrinology. Notably, some infertility-causing variants were recurrent – identified in more than one patient in the ESTAND cohort or reported in patients from other populations, whereas some patients carried more than one genetic defect contributing to spermatogenic failure.
Genetic Defects Male Infertility Conception Research Gene Analysis
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