| Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. | |
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MedLine Citation:
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PMID: 17101338 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in the Wilms' tumor gene are present in children with Frasier syndrome, Denys-Drash syndrome, WAGR syndrome, and some cases of Wilms' tumor. The Wilms' tumor gene product, WT1, is necessary for normal urogenital development. Frasier syndrome is an association between focal segmental glomerulosclerosis, beginning in the second and third decade, male to female sex reversal, and dysgenetic gonads. We report a case of Frasier syndrome in a 17-year-old adolescent girl with renal failure, kidney transplant, and dysgenetic gonads, with development of gonadoblastoma and dysgerminoma (seminoma). The diagnosis of Frasier syndrome was based on nephrotic syndrome with diffuse mesangial sclerosis leading to chronic renal failure, dysgenetic gonads, 46 XY karyotype in a phenotypic female, and a mutation in the Wilms' tumor gene. Prophylactic laparoscopic bilateral salpingo-oopherectomy revealed gonadoblastoma and seminoma in opposite atrophic ovaries as well as a hypoplastic uterus. Early prophylactic resection of dysgenetic gonads is indicated in children with Frasier syndrome to prevent the development of germ cell malignancy. |
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Authors:
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Joseph D Love; Steven D DeMartini; Christopher P Coppola |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric surgery Volume: 41 ISSN: 1531-5037 ISO Abbreviation: J. Pediatr. Surg. Publication Date: 2006 Nov |
Date Detail:
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Created Date: 2006-11-14 Completed Date: 2006-12-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0052631 Medline TA: J Pediatr Surg Country: United States |
Other Details:
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Languages: eng Pagination: e1-4 Citation Subset: IM |
Affiliation:
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Department of Surgery, Wilford Hall Medical Center, San Antonio, Lackland AFB, TX 78236, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Fallopian Tubes / surgery Female Frasier Syndrome / complications* Gonadoblastoma / diagnosis*, etiology, surgery* Gynecologic Surgical Procedures Humans Ovariectomy Seminoma / diagnosis*, etiology, surgery* |
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