Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.

Objective: To study the assisted reproductive management of 17α-hydroxylase/17,20-lyase deficiency (17-OHD) female infertility patients and to explore the genetic defects and fertility of all reported patients.

Methods: Four Chinese women with clinical diagnosis of partial 17-OHD were included in this study. The CYP17A1 gene was analyzed by DNA sequencing to investigate the genetic basis of partial 17-OHD, and hormone levels were measured to describe the endocrine status. Controlled ovarian hyperstimulation (COH) cycles were performed to collect oocytes for in vitro fertilization (IVF), followed by segmented frozen-thawed embryo transfer (FET) cycles.

Results: The CYP17A1 gene of the four patients had three pure heterozygous variants and one compound heterozygous variant, one of which was a newly identified missense mutation (exon5: p. Thr294Asn). Endocrine features were unexplained elevated basal progesterone and decreased androstenedione. Low serum progesterone levels and appropriate endometrial receptivity were obtained with oral glucocorticoid pretreatment during freeze-thaw embryo transfer (FET) cycles. A total of eight resuscitation cycles were performed in four patients, culminating in cesarean sections that obtained three live births.

Conclusions: Female patients with partial 17-OHD can achieve a successful pregnancy through in vitro fertilization (IVF) and subsequent FET. In addition, patients with 17-OHD in the perinatal period need to be especially careful to monitor blood pressure levels to prevent adverse pregnancy outcomes.