title: An XX male with an intratubular undifferentiated germ cell neoplasia.
abstract: OBJECTIVE
  To report a case of a 46,XX male with an intratubular undifferentiated germ cell neoplasia within an extra-abdominal gonad.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Molecular, cytogenetic, pathologic, and clinical units of three tertiary hospitals.
  
  
  METHODS
  A male with ambiguous genitalia at birth and descended testes observed in a pediatric endocrinology setting.
  
  
  METHODS
  Physical examination, hormonal assays, cytogenetic investigation, molecular analysis, surgical intervention for biopsies and bilateral orchiectomy, and pathologic evaluation.
  
  
  METHODS
  Pathologic evaluation with immunostaining for placental alkaline phosphatase and C-kit.
  
  
  RESULTS
  Conventional chromosome analysis revealed a 46,XXq- karyotype, and fluorescence in situ hybridization experiments with the SRY probe found a signal at the short arm of the deleted X chromosome. Molecular analysis indicated the presence of a portion of the short arm of the Y chromosome including the proto-oncogene TSPY. Pathologic evaluation of the gonads revealed an intratubular undifferentiated germ cell neoplasia.
  
  
  CONCLUSIONS
  This is the first case of a 46,XX male with descended testes in whom an intratubular undifferentiated germ cell neoplasia developed. When proposals of management in this subgroup of disorders of sexual differentiation are formulated, the risk of germ cell malignancy must be taken into account.
authors.affiliation: Pediatrics Department, Pediatric Endocrinology Unit, Hospital Ramón y Cajal, Madrid, Spain. atcarcavilla@gmail.com
authors.forename: Atilano
authors.initials: A
authors.lastname: Carcavilla
authors.forename: Milagros
authors.initials: M
authors.lastname: Alonso
authors.forename: Begoña
authors.initials: B
authors.lastname: Ezquieta
authors.forename: Eva
authors.initials: E
authors.lastname: García-Galloway
authors.forename: Raquel
authors.initials: R
authors.lastname: Barrio
authors.forename: Manuel
authors.initials: M
authors.lastname: Nistal
mesh_terms: D000293:Adolescent; D000469:Alkaline Phosphatase; D018797:Cell Cycle Proteins / Q000235:genetics; D002454:Cell Differentiation; D058851:GPI-Linked Proteins; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000032:analysis; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013736:Testicular Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D013737:Testis / Q000737:chemistry / Q000473:pathology*
chemical_list: D018797:Cell Cycle Proteins; D058851:GPI-Linked Proteins; D007527:Isoenzymes; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D019009:Proto-Oncogene Proteins c-kit; D000469:Alkaline Phosphatase; C019839:alkaline phosphatase, placental