PMID- 15289763
OWN - NLM
STAT- MEDLINE
DCOM- 20041026
LR  - 20220419
IS  - 0022-3476 (Print)
IS  - 0022-3476 (Linking)
VI  - 145
IP  - 2
DP  - 2004 Aug
TI  - Near-miss apparent SIDS from adrenal crisis.
PG  - 178-83
AB  - 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.
FAU - Gassner, Heidi L
AU  - Gassner HL
AD  - Department of Pediatrics, University of California, San Francisco, California 
      94143-0978, USA.
FAU - Toppari, Jorma
AU  - Toppari J
FAU - Quinteiro Gonzalez, Sofa
AU  - Quinteiro Gonzalez S
FAU - Miller, Walter L
AU  - Miller WL
LA  - eng
GR  - DK07161/DK/NIDDK NIH HHS/United States
GR  - DK37922/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - J Pediatr
JT  - The Journal of pediatrics
JID - 0375410
RN  - 0 (Phosphoproteins)
RN  - 0 (steroidogenic acute regulatory protein)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*complications/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Infant
MH  - Phenotype
MH  - Phosphoproteins/genetics
MH  - Sudden Infant Death/*etiology/genetics
RF  - 37
EDAT- 2004/08/04 05:00
MHDA- 2004/10/27 09:00
CRDT- 2004/08/04 05:00
PHST- 2004/08/04 05:00 [pubmed]
PHST- 2004/10/27 09:00 [medline]
PHST- 2004/08/04 05:00 [entrez]
AID - S0022-3476(04)00373-7 [pii]
AID - 10.1016/j.jpeds.2004.04.052 [doi]
PST - ppublish
SO  - J Pediatr. 2004 Aug;145(2):178-83. doi: 10.1016/j.jpeds.2004.04.052.