A family case of male infertility with total asthenozoospermia caused by structural abnormalities in the axoneme of the sperm flagellum

The article describes a family case of primary male infertility caused by primary ciliary dyskinesia (PCD). According to the data of electron microscopy of spermatozoa, two siblings with total asthenotheratozoospermia have a total absence of external and internal dynein axoneme handles in the flagella of spermatozoa, indicating the presence of PCD. Both patients had a history of repeated failures of IVF/ICSI programs. The patients did not have situs viscerum inversus and signs of damage to the respiratory system. The other two brothers were healthy and fertile, and both have two children. Non-severe asthenozoospermia was revealed in one of fertile brothers (who is in a consanguineous marriage), and situs viscerum inversus was mentioned in his son. Whole-exome sequencing revealed a pathogenic variant of the c.461A>C in exon 4 of the CCDC103 gene in a homo/hemizygous state in both siblings with PCD, in their fertile brother – in a heterozygous state. The use of transmission electron microscopy of spermatozoa with exome sequencing made it possible to identify the cause of total asthenotheratozoospermia and diagnose the genetic form of male infertility associated with an ultrastructure anomaly of the axoneme.