Fetal gonadoblastoid testicular dysplasia: A focal failure of testicular development

Manuel Nistal, José I. Rodríguez, Eugenia García-Fernández, Mariana M. Cajaiba, Miguel Reyes-Múgica*

*Corresponding author for this work

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Fetal gonadoblastoid testicular dysplasia (FGTD) is an extremely rare lesion, which, in its original description, appeared in association with hydrops fetalis and other malformations. Its phenotype strongly resembles gonadoblastoma, although in contrast with that rare tumor, FGTD is not associated with the intersexual states or gonadal dysgenesis that accompany such neoplasm. Two reports described an association of FGTD and a morphologically similar lesion with Walker-Warburg syndrome. However, we have not confirmed such an observation, although a nonspecific muscle disorder was found in one of the examples we describe in this article. Here we study 2 additional cases, providing a detailed topographical, histomorphological, and immunophenotypical analysis. A review of all 5 previously described cases is conducted. The features of this lesion support the notion that a focal defect in testicular development is its most likely pathogenesis.

Original languageEnglish (US)
Pages (from-to)274-281
Number of pages8
JournalPediatric and Developmental Pathology
Volume10
Issue number4
DOIs
StatePublished - Mar 22 2007

Keywords

  • Gonadoblastoid
  • Gonadoblastoma
  • Hydrops fetalis
  • Testicular development
  • Testicular dysgenesis
  • Walker-warburg syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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    Nistal, M., Rodríguez, J. I., García-Fernández, E., Cajaiba, M. M., & Reyes-Múgica, M. (2007). Fetal gonadoblastoid testicular dysplasia: A focal failure of testicular development. Pediatric and Developmental Pathology, 10(4), 274-281. https://doi.org/10.2350/06-09-0158.1