ArticleJournal of ovarian research2023
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Article in Journal of ovarian research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency.Frontiers in endocrinology · 2025Pooled it
- 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.Frontiers in endocrinology · 2026Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.Journal of assisted reproduction and genetics · 2025Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene variants. Female patients with 17-OHD demonstrate a broad clinical spectrum, including oligomenorrhea or amenorrhea and infertility, often as the sole manifestation. However, no spontaneous pregnancies in affected women have been reported.
objectiveThis retrospective cohort study aimed to explore the endocrine characteristics and assisted reproductive technique (ART) performance in women with 17-OHD.
methodsFive women were referred for primary infertility in a university-affiliated hospital over an eight-year period. The endocrine profiles and cycle characteristics during a total of nine cycles of ovarian stimulation and eight cycles of frozen-thawed embryo transfer (FET) were described in details.
resultsThree cases had homozygous variants and two cases had compound heterozygous variants, including one novel missense variant (p.Leu433Ser) in the CYP17A1 gene. Despite dual-suppression of progesterone (P) production by glucocorticoid and gonadotropin releasing hormone agonist, gradually increased P level, relatively low estradiol concentrations and thin endometrium were observed, negating fresh embryo transfer. During FET cycles, appropriate treatment resulted in low serum P levels and adequate endometrial thickness, leading to four live births.
conclusionsOur findings demonstrate that continuous elevation of serum P during follicular growth impairs endometrial receptivity, the likely cause of female infertility in 17-OHD. Therefore, female infertility caused by 17-OHD is suggested as an indication for freeze-all strategy, with promising reproductive prognoses following segmented ovarian stimulation and FET treatment.
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