Linked Life Data

3460996

Source:http://linkedlifedata.com/resource/pubmed/id/3460996

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1986-9-18
pubmed:abstractText
We describe the metabolism of cortisol (F) in three children, two of them siblings, with apparent mineralocorticoid excess (AME). As with prior patients with AME, oxidation of F to cortisone (E) was impaired, but reduction of E to F was not. We propose that this metabolic defect is caused by deficient 11-dehydrogenase associated with unimpaired 11-reductase. The following supporting observations were made: urinary C21 11-hydroxy metabolites exceeded C21 11-oxo metabolites: ratio of urinary cortols to cortolones, 6.6 +/- 2.8 (+/- SD; normal, 0.47); tetrahydrocortisol (THF) and alloTHF to tetrahydrocortisone, 14.6 +/- 5.6 (normal, approximately 1); normal subjects oxidized [11 alpha-3H]F with transfer of 3H to water; the patients did not; 11-hydroxy, but not 11-oxo, C19 steroids were excreted into the urine; and fibroblasts from patients had 5 times more 11-reductase activity than normal subjects, though fibroblasts from neither group had 11-dehydrogenase activity. Other defects of cortisol metabolism not directly associated with 11-dehydrogenase deficiency were found: impaired conversion of tetrahydro to hexahydro neutral steroids, indicating defective reductive metabolism of the side chain; depressed F production rate and increased half-life of circulating F, resulting in normal blood levels of F; increased excretion of unconjugated F metabolites; and decreased excretion of THF relative to alloTHF, consistent with a 5 beta-reductase defect. Excretion of acidic metabolites of F (cortoic acids) was within the normal range. However, little or no 20 beta-hydroxy acids were excreted, while the level of urinary 20 alpha-hydroxy acids was increased. The 11-hydroxy to 11-oxo ratio of acid metabolites was similar to values in normal subjects. The proportion of cortoic acids relative to neutral hexahydro metabolites was increased (0.37 to 1.27 in patients; 22 in normal subjects). We conclude that children with AME have multiple defects in the conversion of F to neutral metabolites, while metabolism to cortoic acids was less extensively affected. How the defects in cortisol metabolism and the symptoms of AME are related remains to be determined.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0021-972X
pubmed:author
pubmed:issnType
Print
pubmed:volume
63
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
550-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
The syndrome of apparent mineralocorticoid excess: its association with 11 beta-dehydrogenase and 5 beta-reductase deficiency and some consequences for corticosteroid metabolism.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports