| pubmed-article:9556656 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9556656 | lifeskim:mentions | umls-concept:C0038304 | lld:lifeskim |
| pubmed-article:9556656 | lifeskim:mentions | umls-concept:C0852654 | lld:lifeskim |
| pubmed-article:9556656 | lifeskim:mentions | umls-concept:C0376249 | lld:lifeskim |
| pubmed-article:9556656 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:9556656 | pubmed:dateCreated | 1998-4-28 | lld:pubmed |
| pubmed-article:9556656 | pubmed:abstractText | Nonclassical steroid 21-hydroxylase deficiency is an autosomal recessive disorder that is defined by clinical and hormonal criteria that distinguishes it from the classical 21-hydroxylase deficiency. No estimates of the gene frequency of nonclassical 21-hydroxylase deficiency, also called attenuated, late-onset, acquired, and cryptic adrenal hyperplasia, have been published thus far. Here, we have used HLA-B genotype data in families containing multiple members affected with nonclassical 21-hydroxylase deficiency together with the results of quantitative hormonal tests to arrive at estimates of gene and disease frequencies for this disorder. We found nonclassical 21-hydroxylase deficiency to be a far more common disorder than classical 21-hydroxylase deficiency, which occurs in 1/8,000 births. The prevalence of the disease in Ashkenazi Jews was 3.7%; in Hispanics, 1.9%; in Yugoslavs, 1.6%; in Italians, 0.3%; and in the diverse Caucasian population, 0.1%. The gene for nonclassical 21-hydroxylase deficiency is in genetic linkage disequilibrium with HLA-B14 in Ashkenazi Jews, Hispanics, and Italians, but not in Yugoslavs or in a diverse, non-Jewish, Caucasian group. The penetrance of nonclassical 21-hydroxylase deficiency gene in the HLA-B14 containing haplotypes was incomplete. Thus, nonclassical 21-hydroxylase deficiency is probably the most frequent autosomal recessive genetic disorder in man and is especially frequent in Ashkenazi Jews, Hispanics, Italians, and Yugoslavs. | lld:pubmed |
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| pubmed-article:9556656 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9556656 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9556656 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9556656 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9556656 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9556656 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:DupontBB | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:KastelanAA | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:PiazzaAA | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:RubinsteinPP | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:NewM IMI | lld:pubmed |
| pubmed-article:9556656 | pubmed:author | pubmed-author:SpeiserP WPW | lld:pubmed |
| pubmed-article:9556656 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9556656 | pubmed:volume | 37 | lld:pubmed |
| pubmed-article:9556656 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9556656 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9556656 | pubmed:pagination | 650-67 | lld:pubmed |
| pubmed-article:9556656 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9556656 | pubmed:year | 1985 | lld:pubmed |
| pubmed-article:9556656 | pubmed:articleTitle | High frequency of nonclassical steroid 21-hydroxylase deficiency. | lld:pubmed |
| pubmed-article:9556656 | pubmed:affiliation | Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA. | lld:pubmed |
| pubmed-article:9556656 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9556656 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9556656 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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