Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary kidney disorder mostly caused by mutations in or genes. Here, we report thirteen ADPKD males with infertility and investigated the sperm morphological defects associated with PC1 disruption.

Methods: Targeted next-generation sequencing was performed to detect variants in patients.

Associations of Sperm mtDNA Copy Number, DNA Fragmentation Index, and Reactive Oxygen Species With Clinical Outcomes in ART Treatments.

Recent studies have suggested that sperm mitochondrial DNA copy number (mtDNA-CN), DNA fragmentation index (DFI), and reactive oxygen species (ROS) content are crucial to sperm function. However, the associations between these measurements and embryo development and pregnancy outcomes in assisted reproductive technology (ART) remain unclear. Semen samples were collected from 401 participants, and seminal quality, parameters of sperm concentration, motility, and morphology were analyzed by a computer-assisted sperm analysis system.

Different Strategies of Preimplantation Genetic Testing for Aneuploidies in Women of Advanced Maternal Age: A Systematic Review and Meta-Analysis.

Background: Preimplantation genetic testing for aneuploidies (PGT-A) is widely used in women of advanced maternal age (AMA). However, the effectiveness remains controversial.

Method: We conducted a comprehensive literature review comparing outcomes of IVF with or without PGT-A in women of AMA in PubMed, Embase, and the Cochrane Central Register of Controlled Trials in January 2021.

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.

Background: Alport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in at Xq22 accounts for 80-85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.

[Mechanisms of polycystic kidney diseases inducing male reproductive disorders].

Polycystic kidney diseases (PKD) are inherited monogenetic disorders characterized by multiple progressive renal cysts, which can be divided into two types－ autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). Although most of the male patients with PKD have normal fertility, some are reportedly infertile. Recent studies show that the reproductive disorders in PKD males are associated with such pathological changes as seminal vesicle cysts, asthenozoospermia, necrozoospermia, flagella structural abnormalities, and end-stage renal disease.