[Clinical characteristics and genetic analysis of a case with 47,XYY Disorder of sex development due to variant of NR5A1 gene].
This DSD patient presented with the clinical features of tall stature and primary amenorrhea. The NR5A1 gene variant c.86C>A (p.Thr29Lys) probably underlay the Disorder of sex development in this patient. Above finding has enriched the spectrum of pathogenic variants of the NR5A1 gene.
Authors
- Jie Li (ORCID: https://orcid.org/0000-0001-9632-3733)
- Linlin He (ORCID: https://orcid.org/0000-0002-2148-4660)
- Honglei Duan (ORCID: https://orcid.org/0000-0002-8726-2569)
- Ying Yang (ORCID: https://orcid.org/0009-0006-1593-9856)
- Yanan Liu (ORCID: https://orcid.org/0000-0002-9230-0101)
- Qiqi Xu (ORCID: https://orcid.org/0009-0000-7685-5572)
Institutions
- Nanjing Drum Tower Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-08-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20250224-00103
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00