| pubmed-article:9545098 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C0312418 | lld:lifeskim |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C0852654 | lld:lifeskim |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C1317078 | lld:lifeskim |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
| pubmed-article:9545098 | lifeskim:mentions | umls-concept:C0036667 | lld:lifeskim |
| pubmed-article:9545098 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:9545098 | pubmed:dateCreated | 1998-5-21 | lld:pubmed |
| pubmed-article:9545098 | 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. | lld:pubmed |
| pubmed-article:9545098 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9545098 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9545098 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9545098 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9545098 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:9545098 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:9545098 | pubmed:author | pubmed-author:LeeP APA | lld:pubmed |
| pubmed-article:9545098 | pubmed:author | pubmed-author:WitchelS FSF | lld:pubmed |
| pubmed-article:9545098 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9545098 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:9545098 | pubmed:volume | 76 | lld:pubmed |
| pubmed-article:9545098 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9545098 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9545098 | pubmed:pagination | 337-42 | lld:pubmed |
| pubmed-article:9545098 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
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| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
| pubmed-article:9545098 | pubmed:meshHeading | pubmed-meshheading:9545098-... | lld:pubmed |
| pubmed-article:9545098 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9545098 | pubmed:articleTitle | Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests. | lld:pubmed |
| pubmed-article:9545098 | pubmed:affiliation | Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania 15213, USA. sfs@med.pitt.edu | lld:pubmed |
| pubmed-article:9545098 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9545098 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9545098 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
