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Sex cord tumor with annular tubules in patients with Turner syndrome: Mosaicism 45X/46XY

  • María Alejandra Sánchez
  • , Angie Lizeth Garzón
  • , Jaime Pérez
  • , Adam B. Hittelman
  • , Camila Céspedes
  • , Catalina Forero
  • , Nicolás Fernández

Research output: Contribution to journalCase report articlepeer-review

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.

Translated title of the contributionTumor de cordones sexuales con túbulos anulares en paciente con síndrome de Turner: mosaicismo 45X/46XY
Original languageEnglish
Pages (from-to)194-198
Number of pages5
JournalUrologia Colombiana
Volume27
Issue number2
DOIs
StatePublished - 2018

Keywords

  • Y chromosome
  • gonadal dysgenesis
  • gonadoblastoma
  • mosaicism
  • sex cord stromal tumor
  • turner syndrome

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