3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma
| Autor: | Charles I. Scott, Philip J. Wolfson, Janice R Hong, Matthew Barber, Marta Guttenberg |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Pathology
medicine.medical_specialty Ovariectomy Gonadoblastoma Gonadal dysgenesis Dwarfism Biology Y chromosome medicine Humans Ovarian Neoplasms Bone Diseases Developmental Ovary Neoplasms Second Primary Karyotype General Medicine Anatomy medicine.disease Phenotype Osteochondrodysplasia Campomelic dysplasia Dysplasia Child Preschool Karyotyping Pediatrics Perinatology and Child Health Female Surgery |
| Zdroj: | Journal of Pediatric Surgery. 30:1735-1737 |
| ISSN: | 0022-3468 |
| Popis: | The authors report the case of bilateral gonadoblastomas in a phenotypic female, with a 46,XY karyotype, with campomelic dysplasia. Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma. Phenotypic females with campomelic dysplasia should be karyotyped once the skeletal dysplasia is recognized. phenotypic females with campomelic dysplasia should undergo gonadectomy if their karyotype includes a Y chromosome or fragment. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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