Congenital juvenile granulosa cell tumor of the testis in a fetus showing full 69,XXY triploidy.
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.
Kos
Marina
M
Institute of Pathology, Medical School University of Zagreb, Zagreb, Croatia.
Nogales
Fernandez Francisco
FF
Kos
Milan
M
Stipoljev
Feodora
F
Kunjko
Kristian
K
D000025:Abortion, Eugenic; D014408:Biomarkers, Tumor / Q000378:metabolism; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006059:Gonadal Dysgenesis; D006106:Granulosa Cell Tumor / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007124:Immunoenzyme Techniques; D007621:Karyotyping; D008297:Male; D011123:Polyploidy; D013736:Testicular Neoplasms / Q000151:congenital / Q000235:genetics / Q000473:pathology*
D014408:Biomarkers, Tumor