Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

Abstract Background Congenital adrenal hyperplasia (CAH) caused by P450 oxidoreductase deficiency (PORD) in 46, XX patients is characterized genital ambiguity, primary amenorrhea, absent or incomplete sexual maturation, infertility, skeletal malformations and so on. But few pregnancies have been reported from these female with PORD. Case description A 29-year-old Chinese woman PORD due to the compound heterozygous mutation (c.1370G > A/c.1196_1204del) ( POR ) gene had suffered amenorrhea infertility. She one cancelled cycle of ovulation induction low serum estradiol(E 2 ), high progesterone(P) levels thin endometrium, then vitro fertilization (IVF) was recommended. At first IVF cycle, 4 oocytes were retrieved viable embryos cryopreserved endometrium associated E prematurely elevated P after ovarian stimulation, even though oral dexamethasone used control overproduction at same time. When basal fell < 1.5 ng/ml therapy dexamethasone, artificial endometrial preparation frozen embryo transfer performed, resulting a twin pregnancy. delivered healthy boy girl caesarean section 37 weeks days gestation. After literature search women, no spontaneous pregnancy has only two previous case reports 3 successful through summarized. Conclusions It third report that achieved CAH mutation, disorders steroidogenesis. seemed steroidogenesis didn’t impair developmental potential oocytes. adequate hormonal should be an effective infertility treatment for women.