Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature
Wolffian anomalies may be present in 45,X/46,XY phenotypic male mosaics and warrant systematic evaluation, particularly in the context of infertility management. This case also demonstrates that using WES instead of conventional karyotyping may enhance the speed in reaching 45,X/46,XY diagnosis, and consequently, longitudinal management of the broad spectrum of comorbidities in this condition.
Authors
- Avirup Dutta (ORCID: https://orcid.org/0000-0002-3595-6198)
- Margus Punab (ORCID: https://orcid.org/0000-0001-9601-6311)
- Stanislav Tjagur (ORCID: https://orcid.org/0000-0001-9679-990X)
- Maris Laan (ORCID: https://orcid.org/0000-0002-8519-243X)
Institutions
- Tartu University Hospital (EE)
- University of Tartu (EE)
Publication Details
- Journal
- F&S Reports
- Published
- 2025-11-08
- DOI
- https://doi.org/10.1016/j.xfre.2025.10.008
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00