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DOI: 10.1016/j.uroco.2017.03.005
Sex cord tumor with annular tubules in patients with Turner syndrome: Mosaicism 45X/46XY
Tumor de cordones sexuales con túbulos anulares en paciente con síndrome de Turner: mosaicismo 45X/46XYPublication History
30 November 2016
13 March 2017
Publication Date:
10 January 2018 (online)
Abstract
Introduction It has been described among the literature the close relationship that exists between dysgenetic gonads with positive Y chromosome and the risk of developing gonadoblastoma. However, it is still uncertain the relationship with stromal tumors and there is not much information about this topic. In this paper is presented the case of a patient with Turner syndrome mosaicism 45X(8)/46,XY(92) and sex cord tumor with annular tubule pattern.
Materials and methods A search was conducted in Embase, Ovid, Ebsco and PubMed databases with the terms “(Turner syndrome) and sex cord stromal tumor”. However, only in PubMed we were able to find an article that meets the search criteria and it is considered the first case report in the literature that refers to the relationship between Turner syndrome and sex cord stromal tumor.
Conclusions There is little evidence that exists for cases like this, so the management of these patients is still uncertain and controversial, especially by the different perspectives in-between specialties. Specifically, with this patient it is still uncertain the relationship between the risk and the benefit of the management with growth hormone after the finding of neoplasm.
Resumen
Introducción En la literatura se ha descrito la estrecha relación que existe entre gónadas disgenéticas con presencia del cromosoma Y y el riesgo de desarrollar gonadoblastoma. Sin embargo, se sabe poco y es incierta la relación que existe con tumores estromales de cordones sexuales. En este trabajo se presenta el caso de una paciente de 14 años años con síndrome de Turner, 45X (8)/46XY(92) con tumor de cordones sexuales con patrón anular.
Materiales y métodos Se realizó una búsqueda en las bases de datos de Embase, Ovid, Ebsco y PubMed con los términos «(Turner Syndrome) AND Sex cord stromal tumor». Sin embargo, solo en PubMed se encontró un artículo que cumpliera con los criterios de búsqueda, y este se considera el primer reporte de caso en la literatura que hace referencia a la relación entre el síndrome de Turner y tumor estromal de cordones sexuales.
Conclusiones Es poca la evidencia que existe para casos como este, por lo cual el manejo de estos pacientes es aún incierto y controvertido, en especial por las diferentes perspectivas de las especialidades tratantes. Específicamente con esta paciente tenemos la dificultad de definir el riesgo-beneficio del manejo con hormona de crecimiento como parte de su tratamiento luego de tener el resultado neoplásico.
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References
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Further reading
- 8 Dendrinos M, Smorgick N, Marsh C, Smith Y, Quint E. Ocurrence of gonadoblastoma in patients with 45,X/46,XY mosaicism. J Pediatr Adolesc Gynecol 28: 2015 http://www.jpagonline.org/article/S1083-3188(14)00354-4/Abstract