Document Detail


X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.
MedLine Citation:
PMID:  6891556     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In a Greenlandic family comprising 171 descendants in 5 generations, 11 boys had died with a clinical picture of adrenocortical insufficiency within three weeks of birth. Three treated male patients, who survived, were closely studied. The adrenal glands could not be identified by computed tomography. The clinical picture and biochemical studies were consistent with congenital adrenal hypoplasia. The pedigree indicates X-linked recessive inheritance. The pubertal development was delayed in two patients aged 14 years. LHRH stimulation yielded a significant rise in LH and FSH in at least one of the patients, adrenal androgen values were very low. A family instruction programme has been set up.
Authors:
K E Petersen; T Bille; B B Jacobsen; T Iversen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta paediatrica Scandinavica     Volume:  71     ISSN:  0001-656X     ISO Abbreviation:  Acta Paediatr Scand     Publication Date:  1982 Nov 
Date Detail:
Created Date:  1983-03-17     Completed Date:  1983-03-17     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0000211     Medline TA:  Acta Paediatr Scand     Country:  SWEDEN    
Other Details:
Languages:  eng     Pagination:  947-51     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adrenal Glands / abnormalities*
Female
Genes, Recessive
Greenland
Humans
Infant
Linkage (Genetics)
Male
Pedigree
Sex Chromosomes*
X Chromosome*

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


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