Novel and recurrent genetic variants associated with male and female infertility

Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next generation sequencing (NGS). However, the genetic cause of the infertility in majority patients is still undefined. Aim: The aim was to identify genetic variants associated with infertility disorders using targeting NGS technique and to describe phenotype - genotype correlation. Methods: We have enrolled 41 patients (36 males and 5 females) with infertility problems or delayed puberty including the patients with hypogonadism hypogonadotropic (HH, n = 12), primary hypogonadism (n = 15), abnormal semen parameters or gonadal dysgenesis (n = 11), androgen insensitivity (n = 3). Genetic tests were performed using NGS panel of 35 genes. Results: Overall, 14 pathogenic (P) or likely pathogenic (LP) variants including 3 novel and 11 recurrent variants were identified. Novel variants were found in genes associated with HH ( FGF8 , FGFR1, SEMA3 ). The genetic cause of the HH was determined in 58% (7/12) of the cases. Overall, The genetic testing enabled identification of the cause of the clinical phenotype in 26% (11/41) of the patients. Conclusions: Our study expands the knowledge of the genetic basis of the infertility disorders and highlights the importance of genetic testing for proper diagnosis making and genetic counselling.