Successful pregnancy and delivery in a Chinese female with pituitary stalk interruption syndrome following in vitro fertilization and embryo transfer: a case report and literature review

Abstract

Abstract Background Pituitary stalk interruption syndrome (PSIS) in female patients is mainly characterized by short stature, primary amenorrhea, absent or incomplete sexual maturation, and infertility. Successful pregnancies among these patients are still extremely rare. This study was designed to describe a successful pregnancy and delivery in a Chinese female with PSIS following in vitro fertilization and embryo transfer. Methods Contrast-enhanced magnetic resonance imaging (MRI) scanning of the hypothalamus-pituitary region and genetic analysis of PSIS-associated genes was performed via whole-exome sequencing to identify the potential genetic causes of this disorder. We additionally explored the feasibility to overcome the infertility by controlled ovarian hyperstimulation and frozen-thawed embryo transfer under multiple pituitary hormone supplementation. Results We found that the 28-year-old Chinese woman with PSIS exhibited characteristic symptoms including multiple pituitary hormone deficiency, typical triad signs in MRI scanning, undetectable serum gonadotropins and estradiol levels, and invisible antral follicles in both ovaries. While no pathogenic/possible pathogenic variants that could or partly explain the typical clinical phenotype of PSIS were found following whole-exome sequencing. At the first attempted controlled ovarian hyperstimulation cycle, 14 oocytes were retrieved, and 6 embryos were acquired. Artificial endometrial preparation and frozen-thawed embryo transfer were performed one month after oocyte retrieval, and one day-5 blastocyst was transferred, resulting in a clinical pregnancy. Under close monitoring during pregnancy and multiple hormones dosage modulation, she delivered a healthy boy by elective cesarean section and the newborn developed normally under 1-year follow-up. Conclusions This is the first report of a successful pregnancy achieved in a woman with PSIS following in vitro fertilization and frozen-thawed embryo transfer. Under continuous hormonal supplementation and pregnancy monitoring, in vitro fertilization and embryo transfer might serve as a safe and effective treatment for infertility among PSIS women.