Loss of the Y-Chromosome in the Primary Metastasis of a Male Sex Cord Stromal Tumor

1999 ◽  
Vol 112 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Willem E de Graaff ◽  
Jannie van Echten ◽  
Anneke Y van der Veen ◽  
Dirk Th Sleijfer ◽  
Albertus Timmer ◽  
...  
2018 ◽  
Vol 27 (02) ◽  
pp. 194-198
Author(s):  
María Sánchez ◽  
Angie Garzón ◽  
Jaime Pérez ◽  
Adam Hittelman ◽  
Camila Céspedes ◽  
...  

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.


Author(s):  
Asli Muratli ◽  
Askin Eroglu ◽  
Aysen Terzi ◽  
Ugur Mungan ◽  
Mustafa Secil

1995 ◽  
Vol 154 (4) ◽  
pp. 1479-1479 ◽  
Author(s):  
Ross A. Rames ◽  
Mary Richardson ◽  
Frederick Swiger ◽  
Anthony Kaczmarek

2002 ◽  
Vol 44 (3) ◽  
pp. 330-332 ◽  
Author(s):  
Kenji Kurosawa ◽  
Keiko Fukutani ◽  
Mitsuo Masuno ◽  
Hiroshi Kawame ◽  
Yukikatsu Ochiai

Genetics ◽  
2003 ◽  
Vol 163 (1) ◽  
pp. 245-251 ◽  
Author(s):  
Indrajit Nanda ◽  
Ute Hornung ◽  
Mariko Kondo ◽  
Michael Schmid ◽  
Manfred Schartl

Abstract In the medaka, a duplicated version of the dmrt1 gene, dmrt1bY, has been identified as a candidate for the master male sex-determining gene on the Y chromosome. By screening several strains of Northern and Southern medaka we identified a considerable number of males with normal phenotype and uncompromised fertility, but lacking dmrt1bY. The frequency of such males was >10% in some strains and zero in others. Analysis for the presence of other Y-linked markers by FISH analysis, PCR, and phenotype indicated that their genotype is XX. Crossing such males with XX females led to a strong female bias in the offspring and also to a reappearance of XX males in the following generations. This indicated that the candidate male sex-determining gene dmrt1bY may not be necessary for male development in every case, but that its function can be taken over by so far unidentified autosomal modifiers.


SURG Journal ◽  
2008 ◽  
Vol 1 (2) ◽  
pp. 20-25
Author(s):  
Okimi Peters ◽  
W. Allan King

The detection of the SRY (Sex-determining region on the Y chromosome) gene is a popular method used for the identification of freemartins (XX/XY female chimeras). This method relies on the fact that the SRY gene is a Y chromosome specific gene and is thus normally only present in males therefore detecting its presence in a female indicates the presence of male cells (XY cells) within the female. This concept can be extrapolated to the male counterparts of freemartins with regards to the Xist gene. This gene is normally only widely expressed in females and can be used as a marker for identifying females. Therefore, detecting Xist gene expression in males (in tissues other than the testes, as the Xist gene is expressed exclusively in the testes of males) may indicate that these males contain transcriptionally competent female cells and thus necessarily labels them as sex-chromosome chimeras. In the present study four previously identified male sex chromosome chimeras were screened for the expression of the Xist gene using reverse transcription Polymerase Chain Reaction (PCR), and it was detected in three of the four chimeras. Xist expression was not detected in one of the chimeras because the proportion of female cells in its blood is significantly low and thus it is likely that the blood sample used in the study did not possess female cells. None-the-less it was concluded that the detection of Xist expression in male sex chromosome chimeras can be used as an indication of the presence and transcriptional competence of female cells within them.


1989 ◽  
Vol 11 (1) ◽  
pp. 186-189 ◽  
Author(s):  
Albert A. Nemcek ◽  
Madeleine R. Fisher ◽  
Edwin Leschorn ◽  
John Garnett

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