Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in chi...

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Autores principales: Cunha, Sarah Crestian, de Andrade, Juliana Gabriel Ribeiro, de Angelis, Camila Matsunaga, Billis, Athanase, Bustorff-Silva, Joaquim Murray, Maciel-Guerra, Andréa Trevas, Miranda, Márcio Lopes, Guerra-Júnior, Gil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118668/
https://www.ncbi.nlm.nih.gov/pubmed/30624506
http://dx.doi.org/10.20945/2359-3997000000091
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author Cunha, Sarah Crestian
de Andrade, Juliana Gabriel Ribeiro
de Angelis, Camila Matsunaga
Billis, Athanase
Bustorff-Silva, Joaquim Murray
Maciel-Guerra, Andréa Trevas
Miranda, Márcio Lopes
Guerra-Júnior, Gil
author_facet Cunha, Sarah Crestian
de Andrade, Juliana Gabriel Ribeiro
de Angelis, Camila Matsunaga
Billis, Athanase
Bustorff-Silva, Joaquim Murray
Maciel-Guerra, Andréa Trevas
Miranda, Márcio Lopes
Guerra-Júnior, Gil
author_sort Cunha, Sarah Crestian
collection PubMed
description A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence.
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spelling pubmed-101186682023-04-21 Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis Cunha, Sarah Crestian de Andrade, Juliana Gabriel Ribeiro de Angelis, Camila Matsunaga Billis, Athanase Bustorff-Silva, Joaquim Murray Maciel-Guerra, Andréa Trevas Miranda, Márcio Lopes Guerra-Júnior, Gil Arch Endocrinol Metab Case Report A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence. Sociedade Brasileira de Endocrinologia e Metabologia 2018-10-01 /pmc/articles/PMC10118668/ /pubmed/30624506 http://dx.doi.org/10.20945/2359-3997000000091 Text en https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Cunha, Sarah Crestian
de Andrade, Juliana Gabriel Ribeiro
de Angelis, Camila Matsunaga
Billis, Athanase
Bustorff-Silva, Joaquim Murray
Maciel-Guerra, Andréa Trevas
Miranda, Márcio Lopes
Guerra-Júnior, Gil
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title_full Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title_fullStr Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title_full_unstemmed Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title_short Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
title_sort early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118668/
https://www.ncbi.nlm.nih.gov/pubmed/30624506
http://dx.doi.org/10.20945/2359-3997000000091
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