Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report
This 16-year follow-up case demonstrates that heterozygous POR variants may modulate the phenotype and hormonal profile in 21-OHD. These findings highlight the importance of whole-exome sequencing in atypical 21-OHD cases to identify potential modifiers of steroidogenic pathways.
Authors
- X.D. Wang (ORCID: https://orcid.org/0009-0000-3651-2110)
- Miao Qin
- C X Gong
- Zheng Yuan
- Ming Cheng
- Bingyan Cao
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2026-02-26
- DOI
- https://doi.org/10.1159/000551139
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00