Document Detail

Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
MedLine Citation:
PMID:  21895585     Owner:  NLM     Status:  Publisher    
21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia, with an incidence of 1 : 14 000 live births and equal prevalence among males and females. Newborns with the most severe "salt-wasting" form of 21-OHD are susceptible to salt-wasting crises in the first few weeks of life. This is associated with morbidity and mortality. 21-OHD newborn screening (NBS) is currently performed in many countries. Despite several prominent medical societies recommending 21-OHD NBS, no state in Australia currently screens for this condition. We report a case that illustrates the need to reconsider including 21-OHD in NBS. 21-OHD NBS can be reliable, sensitive and effective in reducing morbidity and mortality.
Joyce Y Wu; - Sudeep; David M Cowley; Mark Harris; Ivan N McGown; Andrew M Cotterill
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Publication Detail:
Journal Detail:
Title:  The Medical journal of Australia     Volume:  195     ISSN:  1326-5377     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-9-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0400714     Medline TA:  Med J Aust     Country:  -    
Other Details:
Languages:  ENG     Pagination:  260-262     Citation Subset:  -    
Department of Clinical Chemistry, Mater Hospital, Brisbane, QLD, Australia.
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