Document Detail


Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.
MedLine Citation:
PMID:  15951888     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although the occurrence of pure gonadal dysgenesis PGD is usually sporadic and nonfamilial, here we present 3 sisters with 46, XX PGD, who are born from a first cousin marriage. Review of their family pedigree is compatible with autosomal recessive inheritance. Surprisingly, 2 of these sisters developed ovarian tumors. Both showed the pathological result of dysgerminoma with syncytiotrophoblastic giant cells. These 2 cases are examples of tumorigenesis in PGD without an identifiable Y chromosome. Therefore, malignant degeneration of the streak gonads should be considered in the patients with 46, XX PGD.
Authors:
Bahia Namavar-Jahromi; Mitra Mohit; Perikala V Kumar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Saudi medical journal     Volume:  26     ISSN:  0379-5284     ISO Abbreviation:  Saudi Med J     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-06-13     Completed Date:  2006-08-23     Revised Date:  2008-06-23    
Medline Journal Info:
Nlm Unique ID:  7909441     Medline TA:  Saudi Med J     Country:  Saudi Arabia    
Other Details:
Languages:  eng     Pagination:  872-4     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, Shiraz Univeristy of Medical Sciences, Iran. namavarb@sums.ac.ir
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Disorders
Consanguinity
Dysgerminoma / complications*,  pathology
Female
Genes, Recessive
Giant Cells / pathology*
Gonadal Dysgenesis, 46,XX / complications*,  genetics
Humans
Iran
Ovarian Neoplasms / complications*
Trophoblasts / pathology

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