Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Rosalba Sevilla-Montoya; Maria de Jesus Zavaleta-Abreu; Gloria Queipo; Silvia Sanchez; Sara Frias; Alberto Hidalgo-Bravo; Patricia Grether-González

doi:10.1016/j.tjog.2021.03.025

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwan J Obstet Gynecol. 2021 May;60(3):526-529. doi: 10.1016/j.tjog.2021.03.025.

Authors

Rosalba Sevilla-Montoya¹, Maria de Jesus Zavaleta-Abreu¹, Gloria Queipo², Silvia Sanchez³, Sara Frias⁴, Alberto Hidalgo-Bravo⁵, Patricia Grether-González⁶

Affiliations

¹ Department 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.
² Human Genetics Department, General Hospital of Mexico, School of Medicine UNAM, Dr. Balmis 148, Doctores, Cuauhtémoc, Z. C. 06720 Mexico City, Mexico.
³ Cytogenetics Laboratory, National Institute of Pediatrics, Insurgentes Sur 3700, Insurgentes Cuicuilco, Z. C. 04530 Mexico City, Mexico.
⁴ Cytogenetics 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, Mexico.
⁵ Department of Genetics, National Institute of Rehabilitation, Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Z. C. 14389, Mexico City, Mexico.
⁶ Department 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. Electronic address: pgrether@gmail.com.

PMID: 33966741
DOI: 10.1016/j.tjog.2021.03.025

Abstract

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.

Keywords: Amenorrhea; Disorders of sex development; Partial gonadal dysgenesis; Sex chromosome mosaicism.

Publication types

Case Reports

MeSH terms

Amenorrhea / congenital*
Cytogenetic Analysis
Disorders of Sex Development / diagnosis*
Disorders of Sex Development / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Karyotype
Karyotyping
Leukocytes / cytology
Mosaicism*
Sex Chromosome Aberrations*
Sex Chromosomes / genetics*
Urothelium / cytology
Young Adult