An XX male with an intratubular undifferentiated germ cell neoplasia.
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.
Carcavilla
Atilano
A
Pediatrics Department, Pediatric Endocrinology Unit, Hospital Ramón y Cajal, Madrid, Spain. atcarcavilla@gmail.com
Alonso
Milagros
M
Ezquieta
Begoña
B
García-Galloway
Eva
E
Barrio
Raquel
R
Nistal
Manuel
M
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*
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