Longitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report
This case provided critical insights into the genotype-phenotype correlations of classic 21-OHD. Our findings will contribute to precision medicine for managing this rare endocrine disorder during critical infancy periods, and emphasize the need for comprehensive genetic diagnostics and educational values for neonatal 21-OHD care.
Authors
- Jianding Yu (ORCID: https://orcid.org/0000-0002-4434-7001)
- Cheng Huang (ORCID: https://orcid.org/0000-0003-3427-5937)
- Yun Stone Shi (ORCID: https://orcid.org/0000-0002-8842-9818)
- Qingsong Liu (ORCID: https://orcid.org/0000-0002-6689-6407)
- Xinyue Huang (ORCID: https://orcid.org/0000-0003-3728-592X)
- Yin Yi (ORCID: https://orcid.org/0000-0003-2683-1251)
Institutions
- University of Electronic Science and Technology of China (CN)
- Chengdu Women's and Children's Central Hospital (CN)
Publication Details
- Journal
- American Journal of Perinatology Reports
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1055/a-2647-4369
- Primary Topic
- Hormonal Regulation and Hypertension
- Type
- article
- Field-Weighted Citation Impact
- 0.00