Research progress on the effect of enzyme deficiencies and female reproductive health in patients with non-classical congenital adrenal hyperplasia
10.3760/cma.j.cn101441-20241221-00488
- VernacularTitle:非经典型先天性肾上腺皮质增生症酶缺乏对女性生殖健康影响的研究进展
- Author:
Shimin WANG
1
;
Xiuping ZHANG
;
Jiayao CHEN
;
Pengfei ZHU
;
Xueqing WU
Author Information
1. 山西医科大学临床学科建设中心，太原 030001
- Publication Type:Journal Article
- Keywords:
Infertility;
Adrenal hyperplasia, congenital;
21-hydroxylase deficiency;
Non- classical congenital adrenal hyperplasia
- From:
Chinese Journal of Reproduction and Contraception
2025;45(6):637-643
- CountryChina
- Language:Chinese
-
Abstract:
Non-classical congenital adrenal hyperplasia (NCCAH), an autosomal recessive disorder, stems from genetic mutations affecting the enzymes and cofactors integral to adrenal steroidogenesis. These mutations may result in diminished activity or a complete loss of function for critical enzymes, such as 21-hydroxylase, 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, and the steroidogenic acute regulatory protein (StAR). The impairment of these enzymatic processes has profound implications for reproductive health in females, mediated through both genetic and endocrine pathways. This review aims to explore the pathogenesis of various enzyme defects in different types of NCCAH, their clinical features, and their impact on female fertility. It is hoped that this will help refine the diagnostic strategies for infertility associated with NCCAH, thereby enhancing fertility of patients and providing new directions and opportunities for further research in this field.
