Congenital Juvenile Granulosa Cell Tumor of the Testis in a Fetus Showing Full 69, XXY Triploidy

Abstract

Testicular juvenile granulosa cell tumor (TJGCT) occurs predominantly in infancy and may be associated with sex chromosomal abnormalities. We report a fetus aborted because of cytogenetically confirmed complete XXY triploidy. External genitalia of the fetus were female, with a short and patent vagina. The tumor presented as an abdominal multicystic mass with typical histologic and immunohistological features of JGCT. It was connected with a tubular uterus-like structure. The other gonad was an inguinally localized testis that showed histologically a Sertoli cell adenoma. Malformations typical for triploidy were also present: agenesis of the corpus callosum, stenosis of the pulmonary ostium, and hypoplasia of the lungs and adrenals. To our knowledge this is the first case of TJGCT in a triploid fetus.

Testicular and paratesticular tumors and tumor-like lesions in the first 2 decades

“…It most commonly presents in the neonatal period as a parent-or physiciandetected mass. The great majority manifest prior to 6 months of age, with many being congenital, 53,54,58,[105][106][107][108][109][110][111] although occasional examples have been reported in older children. 106 In a recent review of our material that included cases from both consultation and hospital files, 35 of 66 patients were less than 1 month old at diagnosis and 89% were 6 months old or less (Fig.…”

Juvenile Granulosa Cell Tumor of Testis: Case Report and Review of Literature

“…9 As per retrospective analysis, JGCT can be associated with chromosomal abnormalities like 45X/XY mosaicism, complete XXY triploidy, and trisomy 12. 6,15,16 Our case has a normal 46XY karyotype, which was observed in the majority of the cases (35 of 43).…”

Neonatal testicular tumour presenting as an acute scrotum

“…JGCT is associated with ambiguous genitalia both in XO/ XY mosaics and XXY triploidy [8,9] and has been associated with neonatal undescended testes [7] and neonatal torsion [10]. There is a related hydrocele in approximately 10% of cases [11,12] Endocrine features are not usual in the presentation of JGCT and can be used as a means of exclusion for this diagnosis [10].…”