Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases - Report - MDSpire

Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases

  • By

  • Ye Liu

  • Chunmei Zhang

  • Ran Lu

  • Rong Li

  • Ying Wang

  • Haining Wang

  • June 29, 2026

  • 0 min

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Clinical Report: Pregnancy Outcomes Following Assisted Reproductive Technology in Women with 17α-Hydroxylase/17, 20-Lyase Deficiency

Overview

This study evaluates pregnancy outcomes in women with 17α-hydroxylase/17, 20-lyase deficiency (17OHD) who underwent assisted reproductive technology (ART). It highlights the challenges and complications faced during pregnancies in this population.

Background

17α-hydroxylase/17, 20-lyase deficiency is a rare form of congenital adrenal hyperplasia that affects sexual development and fertility in 46, XX females. With advances in ART, there is a growing interest in understanding the reproductive outcomes and management strategies for these patients.

Data Highlights

ParameterValue
Median age at pregnancy preparation29 years (range 21–42)
Hypertension prevalence25.0% (5/20)
Adrenal insufficiency prevalence50.0% (10/20)
Pregnancy complications prevalence46.2% (6/13)
Term vaginal deliveries25% (5/20)

Key Findings

  • Three out of six women desiring fertility achieved clinical pregnancy with ART.
  • A total of 20 pregnancies resulted in 23 live births when combined with reported cases.
  • Nearly 95% of participants received glucocorticoids before embryo transfer.
  • Pregnancy complications occurred in 46.2% of cases, including gestational hypertension and preeclampsia.
  • Only 25% of participants had term vaginal deliveries.

Clinical Implications

The findings indicate that glucocorticoid-assisted progesterone suppression with frozen embryo transfer is a treatment approach used in this population. However, the risks of maternal and perinatal complications require careful monitoring.

Conclusion

Women with 17OHD can achieve pregnancies through ART, but they face significant risks.

Related Resources & Content

  1. The Journal of Clinical Endocrinology & Metabolism, 2026 -- Meta-analysis of Documented Cases of 17α-Hydroxylase/17,20-Lyase Deficiency (17-OHD)
  2. Frontiers in Endocrinology, 2026 -- The impact of regressed endometrial hyperplasia on reproductive outcomes following frozen embryo transfer: a propensity score-matched cohort study
  3. The Journal of Clinical Endocrinology & Metabolism, 2026 -- Evaluation of Cumulative Live Birth Rates in Preimplantation Genetic Testing Cycles: Progestin Versus GnRH Analogues
  4. Frontiers in Reproductive Health, 2026 -- Clinical challenges and therapeutic strategies in women with endometriosis, deep infiltrating endometriosis, and/or adenomyosis undergoing assisted reproductive technologies: a narrative review
  5. Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management - PubMed
  6. Frontiers | Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases
  7. Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management - PubMed
  8. Frontiers | Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases
  9. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline - PMC

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