An XX male with an intratubular undifferentiated germ cell neoplasia
| Autor: | Milagros Alonso, Raquel Barrio, Manuel Nistal, Eva García-Galloway, Atilano Carcavilla, Begoña Ezquieta |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Gonad Adolescent Cell Cycle Proteins Biology Y chromosome GPI-Linked Proteins Proto-Oncogene Mas Testicular Neoplasms Testis medicine Humans X chromosome Gynecology medicine.diagnostic_test Intratubular germ cell neoplasia Obstetrics and Gynecology Karyotype Cell Differentiation Neoplasms Germ Cell and Embryonal medicine.disease Alkaline Phosphatase Sex-Determining Region Y Protein Gonadal Dysgenesis 46 XX Isoenzymes Proto-Oncogene Proteins c-kit medicine.anatomical_structure Testis determining factor Reproductive Medicine Germ cell Fluorescence in situ hybridization |
| Zdroj: | Fertility and sterility. 90(5) |
| ISSN: | 1556-5653 |
| Popis: | Objective To report a case of a 46,XX male with an intratubular undifferentiated germ cell neoplasia within an extra-abdominal gonad. Design Case report. Setting Molecular, cytogenetic, pathologic, and clinical units of three tertiary hospitals. Patient(s) A male with ambiguous genitalia at birth and descended testes observed in a pediatric endocrinology setting. Intervention(s) Physical examination, hormonal assays, cytogenetic investigation, molecular analysis, surgical intervention for biopsies and bilateral orchiectomy, and pathologic evaluation. Main outcome measure(s) Pathologic evaluation with immunostaining for placental alkaline phosphatase and C-kit. Result(s) 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. Conclusion(s) 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. |
| Databáze: | OpenAIRE |
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