Objective:

To report assisted reproductive courses and outcomes in women with 17α-hydroxylase/17, 20-lyase deficiency (17OHD) and to summarize management strategies.

Approach:

• Study Design: Retrospective cohort study of women with 17OHD who achieved clinical pregnancy at a tertiary center from January 2009 to August 2025, along with a systematic review of published cases.
• Participants: Included female patients diagnosed with 17OHD, confirmed by clinical presentation and genetic testing, who desired fertility.
• Data Collection: Demographic, clinical, laboratory, treatment, and outcome data were extracted and analyzed.

Key Findings:

• Among 20 female patients with 17OHD at our center, six desired fertility and three achieved clinical pregnancy with ART.
• Combined with 17 reported cases from 12 studies, a total of 20 pregnancies resulted in 23 live births.
• Median age at pregnancy preparation was 29 (range 21–42) years.
• The prevalence rates of hypertension and adrenal insufficiency were 25.0% (5/20) and 50.0% (10/20), respectively.
• Pregnancy complications occurred in 46.2% (6/13) cases, and only 25% (5/20) had term vaginal deliveries.

Interpretation:

Limitations:

• Small sample size and retrospective design limit generalizability.
• Long-term health outcomes for mothers and children remain unclear.

Conclusion: