Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS

Gozzi T.G., Harris N.P., McGown I.N., Cowley D.M., Cotterill A.M., Campbell P.E., Anderson P.K. and Warne G.L. (2005) Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS. Pediatric and Developmental Pathology, 8 3: 397-401. doi:10.1007/s10024-005-0004-0


Author Gozzi T.G.
Harris N.P.
McGown I.N.
Cowley D.M.
Cotterill A.M.
Campbell P.E.
Anderson P.K.
Warne G.L.
Title Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS
Journal name Pediatric and Developmental Pathology   Check publisher's open access policy
ISSN 1093-5266
Publication date 2005-01-01
Year available 2005
Sub-type Article (original research)
DOI 10.1007/s10024-005-0004-0
Open Access Status Not yet assessed
Volume 8
Issue 3
Start page 397
End page 401
Total pages 5
Place of publication NEW YORK
Publisher SPRINGER
Language eng
Subject 2735 Pediatrics, Perinatology, and Child Health
2734 Pathology and Forensic Medicine
Abstract A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation. On theoretical grounds, the genotype would have been expected to cause simple virilizing congenital adrenal hyperplasia but, because no other cause of death could be found, it is possible that it caused a fatally severe loss of enzyme activity in this child. If this assumption is valid, newborn screening would have prevented this death, had it been available.
Keyword 21-Hydroxylase deficiency
Congenital adrenal hyperplasia
Neonatal screening
Sudden infant death syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
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