Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods. Our aim was to stand out the utility...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-05-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455921000760 |
| _version_ | 1818832946944016384 |
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| author | Rosalba Sevilla-Montoya Maria de Jesus Zavaleta-Abreu Gloria Queipo Silvia Sanchez Sara Frias Alberto Hidalgo-Bravo Patricia Grether-González |
| author_facet | Rosalba Sevilla-Montoya Maria de Jesus Zavaleta-Abreu Gloria Queipo Silvia Sanchez Sara Frias Alberto Hidalgo-Bravo Patricia Grether-González |
| author_sort | Rosalba Sevilla-Montoya |
| collection | DOAJ |
| description | Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods. Our aim was to stand out the utility of urothelial cells for unravelling complex and hidden cell lines in DSD patients. Case report: Herein we report on a 19-year-old female with primary amenorrhea, short stature without ambiguous external genitalia. She had a 45,X/46, XY karyotype in leukocytes. Interphase FISH revealed hidden 45,X/47,XYY/47,XXY/46,XY/46, XX mosaicism in leukocytes and urothelial cells. Conclusion: These findings highlight the importance of investigating sex chromosome mosaicism in other tissues. Of particular interest in cases of DSD are the cells from the urinary epithelium, which may reflect the cell composition of the urogenital ridge, the analysis of these cells should be considered within the clinical assessment of DSD patients. |
| first_indexed | 2024-12-19T02:11:07Z |
| format | Article |
| id | doaj.art-7ab9f009ebb34de08dce2cfc1b968425 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-19T02:11:07Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-7ab9f009ebb34de08dce2cfc1b9684252022-12-21T20:40:45ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592021-05-01603526529Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cellsRosalba Sevilla-Montoya0Maria de Jesus Zavaleta-Abreu1Gloria Queipo2Silvia Sanchez3Sara Frias4Alberto Hidalgo-Bravo5Patricia Grether-González6Department of Genetics and Human Genomics, National Institute of Perinatology, Montes Urales 800, Lomas-Virreyes, Lomas de Chapultepec IV Secc, Z. C. 11000, Mexico City, MexicoDepartment of Genetics and Human Genomics, National Institute of Perinatology, Montes Urales 800, Lomas-Virreyes, Lomas de Chapultepec IV Secc, Z. C. 11000, Mexico City, MexicoHuman Genetics Department, General Hospital of Mexico, School of Medicine UNAM, Dr. Balmis 148, Doctores, Cuauhtémoc, Z. C. 06720 Mexico City, MexicoCytogenetics Laboratory, National Institute of Pediatrics, Insurgentes Sur 3700, Insurgentes Cuicuilco, Z. C. 04530 Mexico City, MexicoCytogenetics Laboratory, National Institute of Pediatrics, Insurgentes Sur 3700, Insurgentes Cuicuilco, Z. C. 04530 Mexico City, Mexico; Biomedical Research Institute UNAM, Circuito, Mario de La Cueva, C.U., Coyoacán, Z. C. 04510 Mexico City, MexicoDepartment of Genetics, National Institute of Rehabilitation, Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Z. C. 14389, Mexico City, MexicoDepartment of Genetics and Human Genomics, National Institute of Perinatology, Montes Urales 800, Lomas-Virreyes, Lomas de Chapultepec IV Secc, Z. C. 11000, Mexico City, Mexico; Corresponding author.Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods. Our aim was to stand out the utility of urothelial cells for unravelling complex and hidden cell lines in DSD patients. Case report: Herein we report on a 19-year-old female with primary amenorrhea, short stature without ambiguous external genitalia. She had a 45,X/46, XY karyotype in leukocytes. Interphase FISH revealed hidden 45,X/47,XYY/47,XXY/46,XY/46, XX mosaicism in leukocytes and urothelial cells. Conclusion: These findings highlight the importance of investigating sex chromosome mosaicism in other tissues. Of particular interest in cases of DSD are the cells from the urinary epithelium, which may reflect the cell composition of the urogenital ridge, the analysis of these cells should be considered within the clinical assessment of DSD patients.http://www.sciencedirect.com/science/article/pii/S1028455921000760AmenorrheaDisorders of sex developmentPartial gonadal dysgenesisSex chromosome mosaicism |
| spellingShingle | Rosalba Sevilla-Montoya Maria de Jesus Zavaleta-Abreu Gloria Queipo Silvia Sanchez Sara Frias Alberto Hidalgo-Bravo Patricia Grether-González Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells Taiwanese Journal of Obstetrics & Gynecology Amenorrhea Disorders of sex development Partial gonadal dysgenesis Sex chromosome mosaicism |
| title | Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| title_full | Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| title_fullStr | Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| title_full_unstemmed | Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| title_short | Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| title_sort | unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells |
| topic | Amenorrhea Disorders of sex development Partial gonadal dysgenesis Sex chromosome mosaicism |
| url | http://www.sciencedirect.com/science/article/pii/S1028455921000760 |
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