A Case Report of Primary Infertility with BPES Syndrome with FOXL2 Gene Mutation and PADI6 Gene Mutation

Abstract

Human forkhead boxl2 (FOXL2) gene is closely related to female ovarian function. Mutations in FOXL2 gene often lead to BPES syndrome. BPES is divided into POF (BPES type I) and non POF (BPES type II). This case report shows that when FOXL2 gene is combined with PADI6 gene mutation, the patient may have obstacles to egg maturation in addition to premature ovarian failure, resulting in the inability of the patient to obtain embryos during art, which eventually leads to the inability of the patient to obtain pregnancy.