Abstract: Fetal gonadoblastoid testicular dysplasia (FGTD) is a rare lesion described originally associated with hydrops fetalis and other malformations. Its phenotype strongly resembles gonadoblastoma, although it does not associate with the intersexual states or gonadal dysgenesis that accompany such neoplasm. Two additional reports described an association of FGTD and a morphologically similar lesion, with Walker-Warburg syndrome. However, we have not confirmed such observation, although a non-specific muscle disorder was found in one of our examples described in this article. Here we study two additional cases, providing a detailed topographical, histomorphological and immunophenotypical analysis. A review of all five previously described cases is conducted. The features of this lesion support a focal defect in testicular developmental as its most likely pathogenesis.
Abstract: The gonadal biopsy provides essential information for the identification, classification and early detection of neoplasias in patients with disorders of sex development. Histopathological findings in these cases must be analysed together with clinical, hormonal, genetic and molecular information before deciding a therapeutic option. Sexual differentiation is the result of multiple and complex genetic and endocrinal mechanisms; therefore, we first present the events taking place during gonadal embryonic development, focusing on the genetic mechanisms involved in sexual determination and the differentiation of the testis and the urogenital tract. In second place, we describe the different gonads in the intersexual states -in testicular regression syndrome, fibrous streak, testicular dysgenesis, streak testes, ovotestes and microscopically normal testes and ovaries-, highlighting the histological features and the differential findings that allow the pathologist to distinguish between these entities with the aid of clinical, genetic, hormonal and molecular information that are characteristic for each situation. In third place, we studied the incidence of neoplasias in gonadal dysgenesis, male pseudohermaphroditism and true hermaphroditism. Finally, we discuss the limitations of gonadal biopsy to achieve a correct diagnosis in the disorders of sex development.
Abstract: Sex-cord formation and organization are important steps in testicular development and depend on adequate interactions between mesenchymal cells, pre-Sertoli cells, and germ cells. These elements form the testicular blastema, the precursor of the testicular parenchyma, morphologically characterized by poorly organized sex cords and mesenchymal components. Here, we study two uncommon testicular lesions, unrelated to other gonadal anomalies. In the first group, we describe the features of persistence of testicular blastema in three fetal autopsy cases, discussing its possible pathogenesis and clinical importance. In the second, we analyze 11 cases of ectopic testicular parenchyma in the tunica albuginea, an uncommon benign condition of uncertain clinical significance, whose main differential diagnosis is gonadal dysgenesis. Based on their similar topography within the testis, and on their possibly shared embryological origin, we propose that both lesions may represent the two extremes of a maldevelopmental spectrum resulting from a focal delay in testicular development.
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.
