Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1980-10-27
pubmed:abstractText
The urinary steroids excreted by three newborn infants with 21-hydroxylase deficiency and by 15 healthy newborns aged two days have been compared after analysis by gas liquid chromatography (GLC). The identity of each steroid was carefully checked by gas chromatography/mass spectroscopy (GC-MS). The enzyme deficiency leads to the elevated excretion of urinary precursor metabolites, mainly 3alpha,17alpha,20alpha-trihydroxy-5beta-pregnan, 3alpha,17alpha,20alpha-trihydroxy-5beta-pregnan-11-one and 3alpha,17alpha-dihydroxy-5beta-pregnan-20-one. In the search for a quick and firm confirmation of suspected 21-hydroxylase deficiency in a newborn baby by means of a GLC-profile of urinary steroids, most attention has up to now been paid to 3alpha,17alpha,20alpha-trihydroxy-5beta-pregnan. However, 3alpha,17alpha-dihydroxy-5beta-pregnan-20-one is a better indicator, as it enables one to confirm the existence of this disease soon after birth directly from the GLC-profile without further analyses by GC-MS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0009-8981
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
105
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
213-24
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia.
pubmed:publicationType
Journal Article, Comparative Study