title: Congenital intra-abdominal bilateral juvenile granulosa cell tumors of the testis associated with constitutional loss of material from chromosome 4.
abstract: Juvenile granulosa cell tumor (JGCT) is an uncommon gonadal stromal tumor that occurs rarely in the testis. We report a newborn boy with bilateral intra-abdominal JGCT presenting with abdominal distention and respiratory distress at birth. He was taken to the operating room emergently, and 2 large masses connected by gubernacula to the inguinal canals were resected. Associated abnormalities included a constitutional chromosome 4 abnormality, polymicrogyria, and renal cysts. This report describes a rare presentation of JGCT with abdominal compression and expands the literature to include bilateral testicular involvement. Additionally, it is the 1st report of JGCT associated with a chromosome 4 abnormality, highlighting a genetic region that may be important in JGCT development.
authors.affiliation: Department of Pediatric Surgery, Harvard Medical School, Boston, MA 02115, USA. david.yu@childrens.harvard.edu
authors.forename: David C
authors.initials: DC
authors.lastname: Yu
authors.forename: Bhavana
authors.initials: B
authors.lastname: Pathak
authors.forename: Sara O
authors.initials: SO
authors.lastname: Vargas
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Javid
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
authors.forename: Jay M
authors.initials: JM
authors.lastname: Wilson
authors.forename: Bradley C
authors.initials: BC
authors.lastname: Linden
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006106:Granulosa Cell Tumor / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013736:Testicular Neoplasms / Q000151:congenital* / Q000235:genetics* / Q000473:pathology