Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China

The present study identified novel mutations in polycystic kidney disease (PKD) genes in China, determined the prevalence of cysts in the genital tract and accessory gonad in autosomal dominant PKD (ADPKD) patients, correlated these genes with ADPKD and male infertility and investigated whether male infertility associated with ADPKD affected the clinical outcomes in a preimplantation genetic testing (PGT) cycle cohort. This study was a cross-sectional study. Twenty-four unrelated men with ADPKD recruited from the Reproductive and Genetic Hospital of CITIC-Xiangya in China were investigated between January 2019 and December 2020. A total of 24 variations were identified in 22 patients, including 23, 1 and 0 variations in PKD1, PKD2 and GANAB, respectively. Genital tract and accessory gonadal cysts were significant dependent variables for male infertility. A diagnosis was made in 87.04% (94/108) and 51.85% (56/108) of the embryos for ADPKD and PGT-A respectively. Clinical pregnancy reached 72.73% per embryo transfer and 84.21% per patient. We identified a group of novel mutations in PKD genes, which enriches the PKD mutation spectrum. Although genital tract and accessory gonadal cysts greatly influence the fertility of men with ADPKD, they have minimal clinical consequences on pregnancy by intracytoplasmic sperm injection (ICSI) and PGT.