Open Access

Disorders of sex development: Genetic characterization of a patient cohort

  • Authors:
    • Mary García-Acero
    • Olga Moreno-Niño
    • Fernando Suárez-Obando
    • Mónica Molina
    • María Carolina Manotas
    • Juan Carlos Prieto
    • Catalina Forero
    • Camila Céspedes
    • Jaime Pérez
    • Nicolas Fernandez
    • Adriana Rojas
  • View Affiliations

  • Published online on: November 12, 2019     https://doi.org/10.3892/mmr.2019.10819
  • Pages: 97-106
  • Copyright: © García-Acero et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as ‘other’ since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broad‑spectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations.
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January-2020
Volume 21 Issue 1

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Spandidos Publications style
García-Acero M, Moreno-Niño O , Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Fernandez N, et al: Disorders of sex development: Genetic characterization of a patient cohort. Mol Med Rep 21: 97-106, 2020
APA
García-Acero, M., Moreno-Niño, O. ., Suárez-Obando, F., Molina, M., Manotas, M.C., Prieto, J.C. ... Rojas, A. (2020). Disorders of sex development: Genetic characterization of a patient cohort. Molecular Medicine Reports, 21, 97-106. https://doi.org/10.3892/mmr.2019.10819
MLA
García-Acero, M., Moreno-Niño, O. ., Suárez-Obando, F., Molina, M., Manotas, M. C., Prieto, J. C., Forero, C., Céspedes, C., Pérez, J., Fernandez, N., Rojas, A."Disorders of sex development: Genetic characterization of a patient cohort". Molecular Medicine Reports 21.1 (2020): 97-106.
Chicago
García-Acero, M., Moreno-Niño, O. ., Suárez-Obando, F., Molina, M., Manotas, M. C., Prieto, J. C., Forero, C., Céspedes, C., Pérez, J., Fernandez, N., Rojas, A."Disorders of sex development: Genetic characterization of a patient cohort". Molecular Medicine Reports 21, no. 1 (2020): 97-106. https://doi.org/10.3892/mmr.2019.10819