An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review

This study aimed to investigate the genetic etiology in an infertile patient presenting with consistently elevated progesterone levels.

Genomic DNA was extracted from the patient’s blood sample and subjected to whole-genome sequencing (NGS) using the Illumina NovaSeq platform. Bioinformatic analyses were conducted to identify single nucleotide variants (SNVs) and insertion-deletion mutations (Indels) potentially associated with the patient’s clinical phenotype. These variants were subsequently validated using Sanger sequencing. To further assess the functional implications of these genetic variants, three-dimensional protein structure simulations and substrate molecular docking analyses were performed on the variant proteins.

A point mutation, c.1096 G > T (p.Val366Leu), was identified in the patient's CYP17A1 gene. Compared to the wild type, the mutant exhibited no significant changes in the overall or local three-dimensional structure, and molecular docking analysis showed no notable difference in binding energy. A literature review indicated that this mutation site is located in the region where the CYP17A1 enzyme interacts with cytochrome b5 (Cyt b5).

We report, for the first time, that a novel mutation in the CYP17A1 gene in an infertile woman may have led to isolated 17,20-lyase deficiency. The patient successfully achieved pregnancy and delivered a healthy baby through in vitro fertilization (IVF).