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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Detalles Bibliográficos
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
Descripción
Sumario: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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