Document Detail


Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
MedLine Citation:
PMID:  18923840     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and altered psycho-social orientation to male. One of the reasons for interrupting replacement therapy in our case was the difficult social and economic status of the family, who lived for many years without basic medical care.
Authors:
Husref Tahirovic; Alma Toromanovic; Marina Grubic; Zorana Grubic; Katja Dumic
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-10-16
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-05-14     Completed Date:  2009-08-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  847-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University Clinical Center, Tuzla, Bosnia and Herzegovina. husref.tahirovic@untz.ba
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / drug therapy*,  genetics,  physiopathology
Child
Drug Administration Schedule
Female
Glucocorticoids / administration & dosage*
Heterozygote
Humans
Mineralocorticoids / administration & dosage*
Mutation
Phenotype
Sexual Maturation / drug effects
Steroid 21-Hydroxylase / genetics*,  metabolism
Virilism / etiology*,  physiopathology,  psychology
Withholding Treatment*
Chemical
Reg. No./Substance:
0/Glucocorticoids; 0/Mineralocorticoids; EC 1.14.99.10/Steroid 21-Hydroxylase

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


Previous Document:  Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and ...
Next Document:  Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children...