Document Detail


Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters.
MedLine Citation:
PMID:  122289     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This report describes the occurrence of cephalothoracic lipodystrophy in one of 7-yr-old identical twin sisters. The affected twin had classical loss of sc fat from her face, upper arms, and trunk as well as associated hypocomplementemia, microscopic hematuria, and a borderline oral glucose tolerance test without hyperinsulinism. The unaffected twin had a normal urinalysis, serum complement, and oral glucose tolerance. Both twins, when challenged iv with LRH or TRH, showed appropriate FSH and LH or TSH and PRL responses, respectively. This report, in conjunction with another similar twin pair recently described in the German literature, makes a simple, single gene genetic etiology untenable and supports the view that cephalothoracic lipodystrophy in an acquired disease.
Authors:
D M Bier; J J O'Donnell; S L Kaplan
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  46     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  1978 May 
Date Detail:
Created Date:  1982-01-20     Completed Date:  1982-01-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  800-7     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Blood Glucose / metabolism
Child
Complement System Proteins / deficiency
Diseases in Twins*
Female
Glucose Tolerance Test
Gonadotropin-Releasing Hormone / diagnostic use
Humans
Kidney Diseases / complications*,  genetics
Lipodystrophy / complications*,  genetics
Thyrotropin-Releasing Hormone / diagnostic use
Grant Support
ID/Acronym/Agency:
5 MOI-RR0079-14/RR/NCRR NIH HHS; EYO1054/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Blood Glucose; 24305-27-9/Thyrotropin-Releasing Hormone; 33515-09-2/Gonadotropin-Releasing Hormone; 9007-36-7/Complement System Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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