Successful delivery in 17,20-lyase Deficiency.

Objective To study and describe the achievement of successful pregnancy and delivery in a patient with 17,20-lyase deficiency. Design Controlled ovarian stimulation (COS) and In Vitro fertilization (IVF), cryopreservation of embryos and frozen-thawed embryo transfer (ET). Setting IVF clinic. Patient A 24 years old, infertile patient with 17,20-lase deficiency. Interventions Controlled ovarian stimulation, follicular aspiration- egg retrieval, IVF, embryo cryopreservation, thawed ET. Main outcome measures Clinical pregnancy, successful delivery. Results Isolated 17,20-lyase deficiency is caused by mutations in the CYP17A1 gene (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. A 24 yo patient with 17,20-lyase deficiency had undergone IVF with gonadotropin releasing hormone agonist (GnRHa) protocol, prednisone, and gonadotropins. After human chorionic gonadotropin (hCG) trigger 37 oocytes were retrieved, 25 ova fertilized, and 17 embryos cryopreserved. After menstrual bleeding, the endometrium was stimulated with oral estradiol, under progesterone suppression with long acting GnRHa and prednisone. When endometrial width of 8.5 mm was reached, vaginal progesterone was added, while gradually decreasing prednisone. On the fourth day of progesterone supplement, two thawed embryos were transferred. After 11 days of human menopausal gonadotropin (hMG), estradiol concentration moderately increased, but progesterone levels remained high, therefore, no fresh ET was performed. Twelve days after thawed ET, hCG was positive, and seven days later, an intrauterine gestational sac was detected, but the pregnancy ended in missed abortion. After two months, another frozen-thawed embryo transfer (FET) was performed, generating a normal gestation, which ended in successful delivery. Conclusion Pregnancy can be achieved in patients with 17,20-lyase deficiency, by IVF, freezing all embrya, and ET in a subsequent cycle, while suppressing endogenous ovarian progesterone with a GnRHa and adrenal suppression with high dose glucocorticoids.