Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
In: Journal of ovarian research, Jg. 16 (2023-06-14), Heft 1, S. 111
Online
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Zugriff:
Background: 17α-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.
Objective: This retrospective cohort study aimed to explore the endocrine characteristics and assisted reproductive technique (ART) performance in women with 17-OHD.
Methods: Five 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.
Results: Three 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.
Conclusions: Our 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.
(© 2023. The Author(s).)
Titel: |
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
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Autor/in / Beteiligte Person: | Pan, P ; Zheng, L ; Huang, J ; Chen, X ; Ni, R ; Zhang, Q ; Yang, D ; Li, Y |
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Zeitschrift: | Journal of ovarian research, Jg. 16 (2023-06-14), Heft 1, S. 111 |
Veröffentlichung: | [London] : BioMed Central, c2008-, 2023 |
Medientyp: | academicJournal |
ISSN: | 1757-2215 (electronic) |
DOI: | 10.1186/s13048-023-01190-6 |
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