Document Detail

Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
MedLine Citation:
PMID:  15549155     Owner:  NLM     Status:  MEDLINE    
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hypertension and hypokalemia complicated with seizures and arrhythmia developed in this 9-year-old girl after abrupt withdrawal of oral dexamethasone but maintenance of fludrocortisone. Suspicion of 11 beta-hydroxylase deficiency led to DNA mutation analysis, which revealed a novel point mutation (CTG 461 CCG) in the CYP11B1 gene converting leucine to proline. Her condition stabilized rapidly after withdrawal of fludrocortisone and administration of hydrocortisone. Regular measurement of blood pressure should be performed in all patients with CAH and test of serum 11-deoxycortisol or deoxycorticosterone level should be performed in those patients with elevated blood pressure to avoid misdiagnosis of 11 beta-hydroxylase deficiency.
Shu-Hua Chang; Hsien-Hsiung Lee; Pen-Jung Wang; Jui-Hsia Chen; Shao-Yin Chu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Formosan Medical Association = Taiwan yi zhi     Volume:  103     ISSN:  0929-6646     ISO Abbreviation:  J. Formos. Med. Assoc.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-19     Completed Date:  2005-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214933     Medline TA:  J Formos Med Assoc     Country:  China    
Other Details:
Languages:  eng     Pagination:  860-4     Citation Subset:  IM    
Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien, Taiwan.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis*
DNA Mutational Analysis
Diagnostic Errors
Point Mutation
Steroid 11-beta-Hydroxylase / genetics*,  metabolism
Reg. No./Substance:
EC 11-beta-Hydroxylase

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

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