Cytochrome P450 enzymes are required for the synthesis of cholesterol and steroid hormones. Cytochrome P450 oxidoreductase (POR) donates electrons to microsomal cytochrome P450 enzymes. POR deficiency (PORD) is a rare autosomal recessive disease. In patients with PORD, steroid hormone synthesis is disrupted, which can cause infertility. The objective of this study was to report on a case of in vitro fertilization-frozen embryo transfer (IVF-FET) in a patient with PORD. The patient's hormone (i.e. 17α-hydroxyprogesterone) and electrolyte levels were within normal ranges ordinarily. Upon controlled ovarian stimulation, follicle growth was normal, but serum estrogen and progesterone levels were low and high, respectively. The serum progesterone level was elevated after long-acting gonadotropin-releasing hormone agonist treatment, and an endometrial biopsy showed a change in the proliferative phase. Genetic tests detected homozygous mutations (c.976 T > G, p.Y326D) in exon 10 of the POR gene. The frozen embryo was transferred during the administration of hormone replacement therapy. No significant morphological or metabolic abnormalities were observed in the neonate. Our findings suggest that infertile women with normal hormone levels may have metabolic diseases such as PORD. Further studies are needed to determine the cause of these diseases and to assist pregnancy in such women.
Keywords: P450 oxidoreductase deficiency; hormone synthesis disorder; in vitro fertilization; pregnancy; progesterone.