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

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

SUMMARY 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 rar...

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Bibliographic Details
Main Authors: Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism
Series:Archives of Endocrinology and Metabolism
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000600644&lng=en&tlng=en
Description
Summary:SUMMARY 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.
ISSN:2359-4292

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