Tetragametic chimera in a patient with sexual ambiguity

Authors

  • Juan José Yunis 1)Director Científico, Servicios Médicos Yunis Turbay y Cia. SAS 2) Profesor Titular, Departamento de Patología, Facultad de Medicina e instituto de Genética, Universidad Nacional de Colombia, Bogotá, D.C. https://orcid.org/0000-0001-7688-9094
  • Luis Enrique Mogollón-Hellal Servicios Médicos Yunis Turbay y Cia. SAS
  • Giselle Adriana Cuervo-Pérez Servicios Médicos Yunis Turbay y Cia SAS https://orcid.org/0009-0003-6065-2844

Keywords:

Gonadal Dysgenesis, DNA, Disorder of Sex Development 46, XY

Abstract

Introduction: Human chimerism is the presence of two (2) or more cell populations in an individual that contain genetic material from more than
one zygote. Phenotypes range from phenotypically normal males, sexual differentiation disorders, or phenotypically normal females. We present a
case of tetragametic chimera in a patient with sexual ambiguity.
Materials and methods: 1-year-old patient with given urogenital malformation, sexual ambiguity, severe hypospadias, interscrotal urethral meatus,
testicles in scrotum, renal ultrasound, and normal urinary tract. Cytogenetic study, microdeletions in Y chromosome, and analysis of STR in blood, buccal cells, hair follicle of the patient and samples of the parents.
Results: Chromosome study 46,XX[18], 46,XY[10]. STR analysis confirmed the presence of 2 cell lines in the different tissues. Analysis of segregation
of STR from parents showed an identical maternal profile in all the samples analyzed, and a paternal profile represented by the contribution of gametes
with different genetic constitution, which allows us to conclude that the tetragametic chimera originated by independent fertilization of an ovule
and a second body. polar.
Conclusions: A case with sexual ambiguity due to tetragametic chimera with chromosomal constitution in peripheral blood 46,XX[18], 46,XY[10] is reported. Analysis of the segregation of STR from the parents allows us to conclude the origin of the tetragametic chimera by independent fertilization of an ovule and a second polar body.

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Author Biographies

Juan José Yunis, 1)Director Científico, Servicios Médicos Yunis Turbay y Cia. SAS 2) Profesor Titular, Departamento de Patología, Facultad de Medicina e instituto de Genética, Universidad Nacional de Colombia, Bogotá, D.C.

  • Director Científico, Servicios Médicos Yunis Turbay y Cia SAS. Bogotá, D.C. y Profesor Titular, Departamento de Patología, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

Luis Enrique Mogollón-Hellal, Servicios Médicos Yunis Turbay y Cia. SAS

  • Servicios Médicos Yunis Turbay y Cia SAS. Bogotá, D.C

Giselle Adriana Cuervo-Pérez, Servicios Médicos Yunis Turbay y Cia SAS

  • Coordinadora área Genética Forense, Servicios Médicos Yunis Turbay y Cia SAS. Bogotá, D.C

References

Yu N, Kruskall MS, Yunis JJ, Knoll JH, Uhl L, Alosco S, et al. Disputed maternity leading to identification of tetragametic chimerism. N Engl J Med [Internet]. 2002

May;346(20):1545-52. https://doi.org/10.1056/NEJMoa013452

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Published

2023-10-26

How to Cite

1.
Yunis JJ, Mogollón-Hellal LE, Cuervo-Pérez GA. Tetragametic chimera in a patient with sexual ambiguity. Iatreia [Internet]. 2023 Oct. 26 [cited 2025 Feb. 5];36(2-S). Available from: https://revistas.udea.edu.co/index.php/iatreia/article/view/354601

Issue

Vol. 36 No. 2-S (2023)

Section

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