Mixed Gonadal Dysgenesis with 45,X/46,X,idic(Y)/46,XY Karyotype: A Case Report.
| Autor: | Shetty RA; KSHEMA Center for Genetic Services, K.S. Hegde Medical Academy, Nitte University, Karnataka, India., Shetty DP; KSHEMA Center for Genetic Services, K.S. Hegde Medical Academy, Nitte University, Karnataka, India., Kulshreshtha PS; Center for Human Genetics, Karnataka, India., Kadandale JS; Center for Human Genetics, Karnataka, India. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of reproduction & infertility [J Reprod Infertil] 2024 Jan-Mar; Vol. 25 (1), pp. 72-76. |
| DOI: | 10.18502/jri.v25i1.15203 |
| Abstrakt: | Background: The purpose of the current study was to report a case with 45,X/46,XY/46,X,idic(Yp) mosaicism showing the male phenotype with mixed gonadal dysgenesis. Case Presentation: A 27 year-old individual, phenotypically male, presented with azoospermia and a micropenis. Both testes were not visualized in the scrotal sac. Due to the presence of a small-sized uterus, the individual was referred to the KSHEMA Center for Genetic Services for chromosomal analysis. Karyotyping revealed a mosaic karyotype of 45,X[44]/46,XY[5]/46,X,idic(Yp)[1]. This finding was further confirmed through fluorescent in situ hybridization (FISH) analysis. The individual's mosaic karyotype consisted of three cell lines, with a higher proportion of the 45,X cell line and lower proportions of the idic(Yp) and 46,XY cell lines. It is worth noting that this mosaic condition in postnatal peripheral blood has not been reported in the literature thus far. Conclusion: The case report demonstrated the importance of performing karyotype and FISH analysis in understanding genetic defects including mosaicism and other chromosomal aberrations, which can influence not only growth and puberty but also sexual development and maturation. Hence, performing cytogenetic and molecular cytogenetic analysis will help clinicians to take a further step in understanding and managing the condition. Competing Interests: Conflict of Interest The authors have no conflicts of interest relevant to this article. (Copyright© 2024, Avicenna Research Institute.) |
| Databáze: | MEDLINE |
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