Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients

PCOS patients had similar CAH carrier rates with the general population in China, and carriers of CAH variants are generally asymptomatic.

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Publication Details

Journal
Journal of Ovarian Research
Published
2025-11-11
DOI
https://doi.org/10.1186/s13048-025-01824-x
Primary Topic
Sexual Differentiation and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients

Xiaohui Zhu, Di Cui, Aiping Mao, Yue Zhao et al.
Journal of Ovarian Research
Sexual Differentiation and Disorders
article

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients

Xiaohui Zhu, Di Cui, Aiping Mao, Yue Zhao, Jie Qiao, Ying Huang, Huahua Jiang, Xiaoyu Long, Yanru Wang
article en

Abstract

PCOS patients had similar CAH carrier rates with the general population in China, and carriers of CAH variants are generally asymptomatic.

Journal of Ovarian ResearchVol. 18(1)
Ministry of Education of the People's Republic of China (CN), Peking University (CN), Reproductive Science Center (US), Ministry of Education (RO), Berry Oncology (China) (CN), Peking University Third Hospital (CN)
Openalex Percentile: Top 70%
Sexual Differentiation and Disorders
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