Document Detail


Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation.
MedLine Citation:
PMID:  19701813     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Virilizing adrenocortical carcinoma and Turner syndrome have opposite clinical manifestations in some aspects. Here, we report on the first case of virilizing adrenocortical carcinoma in a girl with Turner syndrome. A 2 10/12-year-old girl presented pubic hair of Tanner stage III with clitomegaly, deepening of her voice, and tall stature. No other morphologic anomaly was found. Biochemical assessment revealed normal electrolytes with pronounced elevation of adrenal androgens. She was found to have a large mass of the left adrenal gland on abdominal computed tomography scan. She underwent complete resection of the mass, and pathology was consistent with adrenocortical carcinoma. She was tested for TP53 gene mutation, and we found a de novo TP53 gene mutation (Val143Ala) as well as a 45,X karyotype.
Authors:
Jung-Hee Ko; Hyo Sung Lee; Jeong Hong; Jin Soon Hwang
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-08-25
Journal Detail:
Title:  European journal of pediatrics     Volume:  169     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-02-12     Completed Date:  2010-05-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  501-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon, 443721, South Korea.
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MeSH Terms
Descriptor/Qualifier:
Adrenocortical Carcinoma / complications*,  genetics*
Child
Female
Genes, p53*
Humans
Point Mutation / genetics*
Turner Syndrome / complications*
Virilism / genetics*

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