Optimal assisted reproductive strategies for infertile patients with congenital adrenal hyperplasia associated with CYP17A1 gene mutations: a systematic review
10.3760/cma.j.cn101441-20250311-00117
- VernacularTitle:CYP17A1基因突变所致先天性肾上腺皮质增生症合并不孕症患者的最佳助孕治疗策略：一项系统综述
- Author:
Zhijin HOU
1
;
Yang LIU
1
;
Xiaoling YANG
1
;
Dongya LI
1
;
Yushi MENG
1
Author Information
1. 昆明医科大学第二附属医院生殖医学科，昆明 650000
- Publication Type:Journal Article
- Keywords:
CYP17A1 gene mutation;
17α-hydroxylase/17,20-lyase deficiency;
Isolated 17, 20-lyase deficiency;
Fertility treatment
- From:
Chinese Journal of Reproduction and Contraception
2025;45(8):826-832
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To comprehensively evaluate treatment outcomes and assisted reproductive approaches in infertility patients with CYP17A1-deficient congenital adrenal hyperplasia [including 17α-hydroxylase/17,20-lyase deficiency (17-OHD) and isolated 17,20-lyase deficiency (IDL)]. Methods:In this study, PubMed, Embase, Web of Science, Ovid, CNKI, Wanfang Data base, and the Chinese Biomedical Literature Database were systematically searched. The data extracted included basic patient information, treatment plans, and pregnancy outcomes, which were then analyzed descriptively.Results:Totally 19 articles were included, covering 23 cases of successful live births. Among the 23 patients with successful live births, there were 19 patients with 17-OHD, including 17 cases became pregnant through in vitro fertilization and embryo transfer (IVF-ET), 1 case through natural pregnancy, and 1 case through oocyte donation pregnancy; there were 4 cases with IDL, including 2 cases through natural pregnancy and 2 cases through IVF-ET pregnancy. Conclusion:IVF-ET is the preferred fertility treatment option for patients with partial form of 17-OHD. For IDL patients who have natural ovulation, natural pregnancy can be attempted. Glucocorticoids play a crucial role in improving pregnancy outcomes, but their use needs to be individualized.
