Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review
This case highlights the importance of comprehensive genetic testing in females presenting with amenorrhea despite fully developed secondary sexual characteristics.
Authors
- Amir Mohammad Salehi (ORCID: https://orcid.org/0000-0002-1724-6432)
- Arash Dehghan (ORCID: https://orcid.org/0000-0001-9914-8862)
- Zahra Razavi (ORCID: https://orcid.org/0000-0001-5318-9087)
- Atefeh Sadeghi (ORCID: https://orcid.org/0009-0006-9576-1727)
- Ramin Rezaei (ORCID: https://orcid.org/0009-0003-2491-5926)
Institutions
- Hamedan University of Medical Sciences (IR)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-12-13
- DOI
- https://doi.org/10.1186/s12887-025-06399-6
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00