Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells
Por:
Sevilla-Montoya, Rosalba, De Jesus Zavaleta-Abreu, Maria, Queipo, Gloria, SANCHEZ, SILVIA, FRIAS, SARA, Hidalgo-Bravo, Alberto, Grether-Gonzalez, Patricia
Publicada:
1 may 2021
Categoría:
Obstetrics and gynecology
Resumen:
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.
(c) 2021 Taiwan Association of Obstetrics & Gynecology. Publishing
services by Elsevier B.V. This is an open access article under the CC
BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Filiaciones:
Sevilla-Montoya, Rosalba:
Natl Inst Perinatol, Dept Genet & Human Genom, Montes Urales 800,Lomas Chapultepec IV Secc, Mexico City 11000, DF, Mexico
De Jesus Zavaleta-Abreu, Maria:
Natl Inst Perinatol, Dept Genet & Human Genom, Montes Urales 800,Lomas Chapultepec IV Secc, Mexico City 11000, DF, Mexico
Queipo, Gloria:
Univ Nacl Autonoma Mexico, Human Genet Dept, Gen Hosp Mexico, Sch Med, Dr Balmis 148, Mexico City 06720, DF, Mexico
SANCHEZ, SILVIA:
Natl Inst Pediat, Cytogenet Lab, Insurgentes Sur 3700, Mexico City 04530, DF, Mexico
FRIAS, SARA:
Natl Inst Pediat, Cytogenet Lab, Insurgentes Sur 3700, Mexico City 04530, DF, Mexico
Univ Nacl Autonoma Mexico, Biomed Res Inst, Mexico City 04510, DF, Mexico
Hidalgo-Bravo, Alberto:
Natl Inst Rehabil, Dept Genet, Calzada Mexico Xochimilco 289, Mexico City 14389, DF, Mexico
Grether-Gonzalez, Patricia:
Natl Inst Perinatol, Dept Genet & Human Genom, Montes Urales 800,Lomas Chapultepec IV Secc, Mexico City 11000, DF, Mexico
ABC Med Ctr, Av Carlos Fernandez Graef 154, Mexico City 05330, DF, Mexico
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