Genetic study of sex inversion in humans

Authors

  • Salaheddine REDOUANE 1 Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. 2 Laboratory of Physiopathology and Molecular Genetics, Department of Biology, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco.
  • Houda HARMAK 1 Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. 3 Laboratory of Physiopathology, Molecular Genetics and Biotechnology, Department of Biology, Faculty of Sciences Ain Chock. Hassan II University, Casablanca, Morocco.
  • Loubna DAFRALLAH 1 Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
  • Sara BENCHIKH 2 Laboratory of Physiopathology and Molecular Genetics, Department of Biology, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco. 3 Laboratory of Physiopathology, Molecular Genetics and Biotechnology, Department of Biology, Faculty of Sciences Ain Chock. Hassan II University, Casablanca, Morocco.
  • Fatima Ezzahra EL KAHLAOUI 4 Laboratory of Cytogenetics, Pasteur Institute of Morocco, Casablanca, Morocco.
  • Ouafaa ANIQ FILALI 3 Laboratory of Physiopathology, Molecular Genetics and Biotechnology, Department of Biology, Faculty of Sciences Ain Chock. Hassan II University, Casablanca, Morocco.
  • Abderrahim MALKI 2 Laboratory of Physiopathology and Molecular Genetics, Department of Biology, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco.
  • Abdelhamid BARAKAT 1 Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
  • Sanaa NASSEREDDINE 4 Laboratory of Cytogenetics, Pasteur Institute of Morocco, Casablanca, Morocco.
  • Hassan ROUBA 1 Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.

DOI:

https://doi.org/10.80481/revuetest36376

Keywords:

Karyotype, DSD, Sex inversion, Mutations.

Abstract

Sex reversal is considered to be a form of disorders of sex development or DSD (disorders/Differences of sex development). This is an inconsistency between gonadal, phenotypic and chromosomal sex. Sexual development, including the development of gonads and organs reproduction and the acquisition of secondary sexual characteristics, is under genetic control. Indeed, following the bibliographic study carried out in this report, we were able to better understand the pathophysiology of sex reversal, enumerate the associated genetic mutations and identify the signaling pathways affected. In addition, a retrospective study was performed to determine the frequency of sex reversal compared to other categories of DSD. This work focused on a sample of 981 patients with clinical signs indicating the presence of DSD. These patients presented to the Cytogenetics laboratory of the Institut Pasteur in Morocco between the years 2011 and 2021. The karyotype was performed on a heparinized tube according to the standard method. Based on the karyotype results, we found 74 cases of sex inversion corresponding to 7.54%. Abnormal karyotypes accounted for 37.31% with a predominance of Turner syndrome (41.53%), 26.23% of Klinefelter syndrome, 12.3% of patients presented with XY female type sex inversion, 7.92% with sex reversal type XX men and 7.65% had mixed gonadal dysgenesis. Finally, to guide the diagnosis, we established a course of action indicating the genes which are the most incriminated in the two types of sex inversion.

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15-12-2022

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