Linked Life Data

9545098

Source:http://linkedlifedata.com/resource/pubmed/id/9545098

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-5-21
pubmed:abstractText
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. To ascertain carrier status, adrenocorticotropin (ACTH) stimulation tests are often used. To determine the sensitivity of ACTH stimulation to detect heterozygotes and to correlate stimulated 17-hydroxyprogesterone responses with molecular genotype, we compared molecular genetic analysis of the 21-hydroxylase (CYP21) gene with 17-hydroxyprogesterone responses at 30 min in 51 individuals. Molecular genotype analysis and ACTH stimulation tests were performed in healthy volunteers (n = 20) and relatives of patients with congenital adrenal hyperplasia (n = 31). Polymerase chain reaction (PCR) amplification, single-strand conformational polymorphism (SSCP) analysis, allele-specific oligonucleotide hybridization (ASOH) analysis, and restriction fragment length polymorphism (RFLP) analysis were utilized to screen for 14 CYP21 mutations which account for >90% of the mutations associated with 21-hydroxylase deficiency. Molecular genotype analysis classified 28 individuals as heterozygotic carriers and 23 individuals as normal for all mutations tested. As a group, the heterozygotes had significantly greater stimulated 17-hydroxyprogesterone responses at 10 and 30 min (P < 0.0005). However, on an individual basis, 14/28 (50%) genotyped heterozygotic carriers had stimulated 17-hydroxyprogesterone concentrations, 17-hydroxyprogesterone/cortisol ratios, and 17-hydroxyprogesterone incremental elevations indistinguishable from the genotyped normal individuals. Thus, a normal 17-hydroxyprogesterone response to ACTH stimulation testing does not exclude carrier status for 21-hydroxylase deficiency. Molecular genotype analysis is a more reliable method to determine 21-hydroxylase heterozygotes.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
337-42
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:9545098-17-alpha-Hydroxyprogesterone, pubmed-meshheading:9545098-Adrenal Hyperplasia, Congenital, pubmed-meshheading:9545098-Adrenocorticotropic Hormone, pubmed-meshheading:9545098-Female, pubmed-meshheading:9545098-Genotype, pubmed-meshheading:9545098-Heterozygote Detection, pubmed-meshheading:9545098-Humans, pubmed-meshheading:9545098-Male, pubmed-meshheading:9545098-Mutation, pubmed-meshheading:9545098-Oligonucleotides, pubmed-meshheading:9545098-Polymerase Chain Reaction, pubmed-meshheading:9545098-Polymorphism, Restriction Fragment Length, pubmed-meshheading:9545098-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:9545098-Predictive Value of Tests, pubmed-meshheading:9545098-Sensitivity and Specificity, pubmed-meshheading:9545098-Steroid 21-Hydroxylase
pubmed:year
1998
pubmed:articleTitle
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
pubmed:affiliation
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania 15213, USA. sfs@med.pitt.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't