The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus
This study identified several novel variants broadening the mutation spectrum of 46, XY DSD without uterus. The etiology of 46, XY DSDs is complex. Reverse phenotyping helps differentiate the abnormalities and explore the molecular etiology more accurately.
Authors
- Shan Deng (ORCID: https://orcid.org/0000-0002-4380-5779)
- Duoduo Zhang (ORCID: https://orcid.org/0009-0008-4112-4145)
- Leilei Ding (ORCID: https://orcid.org/0000-0001-8764-309X)
- Qinjie Tian (ORCID: https://orcid.org/0000-0002-7461-4203)
- Min Luo (ORCID: https://orcid.org/0000-0003-2030-4282)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1186/s13023-025-03719-y
- Citations
- 1
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Peking Union Medical College Hospital
- Peking Union Medical College