Document Detail


Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2.
MedLine Citation:
PMID:  21835392     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We describe, here, the case report and detailed pelvic magnetic resonance imaging (MRI) aspect of a 17-year-old female XY teenager in which 5-α-reductase deficiency was caused by the homozygous Gly115Asp lost of function SRD5A2 mutation.
Authors:
J Sarfati; S Trabado; L Rocher; D Mallet; B Betari-Tabet; Y Morel; J Young
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-9
Journal Detail:
Title:  Annales d'endocrinologie     Volume:  -     ISSN:  0003-4266     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-8-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0116744     Medline TA:  Ann Endocrinol (Paris)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011. Published by Elsevier Masson SAS.
Affiliation:
UMR-S693 (ST, SBT, JY), faculté de médecine Paris-Sud, université Paris-Sud, 94276 Le-Kremlin-Bicêtre, France; Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le-Kremlin-Bicêtre, France; Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, 94275 Le-Kremlin-Bicêtre, France; Inserm U693, IFR93, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France.
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