›› 2019, Vol. 39 ›› Issue (7): 744-.doi: 10.3969/j.issn.1674-8115.2019.07.009

• Original article (Clinical research) • Previous Articles     Next Articles

Mechanism of male reproductive failure in autosomal dominant polycystic kidney disease and outcomes of assisted reproductive technology treatment

SHI Wei-hui1, 2, LIU Xue-li1, 2, YE Mu-jing1, 2, CHEN Song-chang1, 2, HUANG He-feng2, 3, XU Chen-ming1, 2   

  1. 1. Department of Reproductive Genetics, International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; 2. Shanghai Key Laboratory of Embryo Original Adult Diseases, Shanghai 200030, China; 3. Department of Reproductive Medicine, International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China
  • Online:2019-07-28 Published:2019-08-26
  • Supported by:
    National Natural Science Foundation of China, 81471506, 81771638; National Key Research and Development Program of China, 2016YFC0905103; Western Medicine Guidance Project of Shanghai Science and Technology Commission, 15411964000

PDF (PC)

561

Abstract: Objective · To explore the potential mechanism of male reproductive failure in autosomal dominant polycystic kidney disease (ADPKD) patients and analyze the outcomes of assisted reproductive technology treatment. Methods · Next-generation sequencing was performed for genetic diagnosis of 8 ADPKD patients, who came to International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University School of Medicine, for genetic counseling. The semen of ADPKD patients and normal males who came for pre-pregnancy consultation was collectedmasturbation for sperm analysis. The ultrastructure of sperm was observedtransmission electron microscopy. Outcomes of 7 patients with ADPKD who chose preimplantation genetic testing (PGT) were compared with those of 7 patients who were dystrophin (DMD) gene mutation carriers, undergoing the PGT in the same period. Results · Eight patients with ADPKD were heterozygous for polycystin 1 (PKD1) gene. Key parameters of sperm motion including progressive motility sperm percentage, curvilinear velocity, straight-line velocity, average path velocity, amplitude of lateral head displacement were much lower than those of normal semen, showing mild to severe oligozoospermia. One ADPKD patient with severe oligoathenospermia manifested bilateral seminal vesicle cysts. Transmission electron microscopy showed that the central microtubules of the sperm flagella of ADPKD patients were absent and the surrounding double microtubules were disorganized. There was no significant difference in the number of eggs, fertilization rate, cleavage rate, effective embryo rate and excellent embryo rate between the ADPKD patients and the DMD gene mutation carriers, but the ADPKD patients were prone to early abortion. Conclusion · Male reproductive failure causedADPKD may be related to many factors such as abnormal structure of sperm flagella and genital cysts. Further, PKD1 mutation may play a role in embryo implantation and early development.

Key words: autosomal dominant polycystic kidney disease (ADPKD), polycystin 1 (PKD1), male reproductive failure, preimplantation genetic texting (PGT)

CLC Number: