ReviewJournal of assisted reproduction and genetics2025
Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.
Review in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Clinical Presentation and Treatment of Hyperemesis Gravidarum in a Lady Carrying Twins in the First Trimester: A Case Reports.Clinical case reports · 2026Article
- Successful live birth in a woman with partial 17α-hydroxylase/17,20 lyase deficiency: a case report.Frontiers in medicine · 2026Article
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Authors and funding
7 authors.
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Abstract
purposeTo study the assisted reproductive management of 17α-hydroxylase/17,20-lyase deficiency (17-OHD) female infertility patients and to explore the genetic defects and fertility of all reported patients.
methodsFour Chinese women with clinical diagnosis of partial 17-OHD were included in this study. The CYP17A1 gene was analyzed by DNA sequencing to investigate the genetic basis of partial 17-OHD, and hormone levels were measured to describe the endocrine status. Controlled ovarian hyperstimulation (COH) cycles were performed to collect oocytes for in vitro fertilization (IVF), followed by segmented frozen-thawed embryo transfer (FET) cycles.
resultsThe CYP17A1 gene of the four patients had three pure heterozygous variants and one compound heterozygous variant, one of which was a newly identified missense mutation (exon5: p. Thr294Asn). Endocrine features were unexplained elevated basal progesterone and decreased androstenedione. Low serum progesterone levels and appropriate endometrial receptivity were obtained with oral glucocorticoid pretreatment during freeze-thaw embryo transfer (FET) cycles. A total of eight resuscitation cycles were performed in four patients, culminating in cesarean sections that obtained three live births.
conclusionsFemale patients with partial 17-OHD can achieve a successful pregnancy through in vitro fertilization (IVF) and subsequent FET. In addition, patients with 17-OHD in the perinatal period need to be especially careful to monitor blood pressure levels to prevent adverse pregnancy outcomes.
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