Successful pregnancy of a woman with P450 oxidoreductase deficiency due to two novel compound heterozygous mutations in the POR gene through IVF frozen-thawed embryo transfer

【作者】 黄玲莉； 骆丽华； 王昊昱； 刘雨生；

【机构】 安徽省立医院；

【摘要】 <正>Context:P450 oxidoreductase deficiency(PORD)is a rare variant of congenital adrenal hyperplasia(CAH),caused by POR mutations.No data on reproductive outcomes of women with CAH due to PORD are available.Results:A 31-year-old woman with oligomenorrhea and ovarian cysts desired to conceive.She had an infantile uterus,polycystic ovaries,and mild facial skeletal deformities.After>6 months of E2/P sequential therapies,IVF was更多还原