Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency
This case broadens the phenotypic spectrum of 17-OHD, highlighting that preserved breast development and benign breast lesions may delay diagnosis. Literature review suggests partial loss-of-function variants contribute to this phenotype. Greater awareness is essential to prevent misdiagnosis and unnecessary interventions.
Authors
- Minchun Zhang
- Qifeng Li (ORCID: https://orcid.org/0009-0000-9883-3040)
- Xing Huang (ORCID: https://orcid.org/0000-0001-5115-4163)
- Shuyan Gui
- Jing Yang (ORCID: https://orcid.org/0000-0002-0329-4628)
- Shiwei Lin
Institutions
- Shenzhen Sixth People's Hospital (CN)
- Shenzhen University Health Science Center (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-10-27
- DOI
- https://doi.org/10.3389/fendo.2025.1658362
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- China Postdoctoral Science Foundation
- University of South China