Successful Delivery in 17,20-Lyase Deficiency

Area of Science:

• Reproductive Endocrinology
• Medical Genetics
• Assisted Reproductive Technologies

Background:

• 17,20-lyase deficiency, a rare genetic disorder, impairs steroidogenesis due to mutations in genes like CYP17A1, POR, and CYB5A.
• This deficiency leads to infertility by disrupting the production of essential hormones required for reproductive function.

Observation:

• A 24-year-old infertile patient with 17,20-lyase deficiency underwent controlled ovarian stimulation and in vitro fertilization (IVF).
• Seventeen embryos were cryopreserved, and after a frozen-thawed embryo transfer (FET), an initial pregnancy resulted in missed abortion.
• A subsequent FET led to a successful delivery, demonstrating the feasibility of achieving pregnancy.

Findings:

• The patient underwent IVF with a GnRHa protocol, prednisone, and gonadotropins, resulting in 37 oocytes retrieved and 25 fertilized.
• Controlled ovarian stimulation, embryo cryopreservation, and a carefully managed frozen-thawed embryo transfer protocol were employed.
• The successful pregnancy required suppression of endogenous ovarian progesterone with GnRHa and adrenal suppression with high-dose glucocorticoids.

Implications:

• This case highlights that pregnancy is achievable in patients with 17,20-lyase deficiency through assisted reproductive technologies.
• The strategy of freezing all embryos and performing a subsequent FET, coupled with hormonal suppression, is a successful approach.
• This study provides valuable insights for managing infertility in patients with rare steroidogenic enzyme deficiencies.