A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y)
Complicated cases with mosaic chromosomal patterns can exhibit a wide range of phenotypic features, from apparently normal males with variable external genitalia to females with or without characteristics of Turner syndrome. These phenotypic discrepancies are not directly related to the number of mosaic cells or the specific location of Y chromosome breakage. Therefore, in cases of primary amenorrhea with genotype-phenotype discrepancies, a multidisciplinary approach is essential to guide appropriate sex determination and management.
Authors
- Maryam Abiri (ORCID: https://orcid.org/0000-0002-5004-8390)
- Seyyed Mohammad Ghahestani (ORCID: https://orcid.org/0000-0002-9056-8892)
- Fatemeh Golgiri
- Zohreh Maghsoomi (ORCID: https://orcid.org/0000-0002-9640-8531)
- Nikoo Emtiazi (ORCID: https://orcid.org/0000-0001-7185-5135)
- Maryam Eghbali‐Babadi (ORCID: https://orcid.org/0000-0003-4719-7640)
- Hamed Iraji
- Fatemeh Tajikrostami
Institutions
- Iran University of Medical Sciences (IR)
- Rasool Akram Hospital (IR)
- Firoozgar General Hospital (IR)
- Children's Medical Center (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Daehan saengsik uihak hoeji/Clinical and experimental reproductive medicine
- Published
- 2025-11-24
- DOI
- https://doi.org/10.5653/cerm.2025.08011
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Tehran University of Medical Sciences and Health Services