Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

摘要: We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with agonist trigger and freeze-all approach. Four patients OHSS approach were gathered from the worldwide patient population. These analyzed through Whole Exome Sequencing. In this study known causes of investigated new present at least two individuals searched for. first part study, we evaluated presence mutations genes already be involved OHSS. PGR TP53, heterozygous alterations detected. predicted progesterone resistance recessive inheritance pattern is, therefore, not considered as being causal. The consequences variant detected TP53 currently remain unknown. 2 assessed clinical significance variants previously linked especially focused on ≥ 2 patients. Two have FLT4 gene. Mutations gene are hereditary lymphedema, but no link has been described. Defining for essential view prevention. potential between suggested. Future functional studies define more precise involvement development