Document Detail

Near-miss apparent SIDS from adrenal crisis.
MedLine Citation:
PMID:  15289763     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Adrenal crisis from salt-losing congenital adrenal hyperplasia (CAH) typically occurs in the first 2 weeks of life. We evaluated 3 infants with adrenal crisis who presented at 6 to 8 months of age with near-miss sudden infant death syndrome (SIDS). SUBJECTS: Three 46,XY phenotypic female infants presented near death at 6 to 8 months of age with adrenal crisis and unmeasurable steroid hormones consistent with congenital lipoid adrenal hyperplasia (lipoid CAH). METHODS: We sequenced genes potentially causing this phenotype: steroidogenic acute regulatory protein (StAR), the cholesterol side-chain cleavage enzyme, adrenodoxin reductase, adrenodoxin, and steroidogenic factor 1 (SF1). Site-directed mutagenesis and functional assays were performed for the missense mutation. RESULTS: Hormonal values showed complete absence of adrenal and gonadal steroids. Patient 1 was a compound heterozygote for missense mutation R140P and an mRNA splice donor site mutation in the StAR gene. The R140P mutation was wholly inactive in vitro. Patient 2 was homozygous for a 7 base pair StAR deletion causing a frameshift. No mutations were found in Patient 3, suggesting a novel disease. CONCLUSIONS: Although genetic disorders of steroidogenesis typically present in the first month of life, some defects, especially those in StAR, can present in mid-infancy, when adrenal hyperplasias are rarely considered. Adrenal insufficiency is a subtle disorder that may cause cardiovascular collapse, causing unexplained infant death that resembles SIDS.
Heidi L Gassner; Jorma Toppari; Sofa Quinteiro González; Walter L Miller
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  145     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-08-03     Completed Date:  2004-10-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  178-83     Citation Subset:  AIM; IM    
Department of Pediatrics, University of California, San Francisco, California 94143-0978, USA.
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MeSH Terms
Adrenal Hyperplasia, Congenital / complications*,  genetics
DNA Mutational Analysis
Phosphoproteins / genetics
Sudden Infant Death / etiology*,  genetics
Grant Support
Reg. No./Substance:
0/Phosphoproteins; 0/steroidogenic acute regulatory protein

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