| pubmed-article:9063431 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9063431 | lifeskim:mentions | umls-concept:C0021270 | lld:lifeskim |
| pubmed-article:9063431 | lifeskim:mentions | umls-concept:C0220766 | lld:lifeskim |
| pubmed-article:9063431 | lifeskim:mentions | umls-concept:C0814030 | lld:lifeskim |
| pubmed-article:9063431 | lifeskim:mentions | umls-concept:C0205177 | lld:lifeskim |
| pubmed-article:9063431 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:9063431 | pubmed:dateCreated | 1997-4-8 | lld:pubmed |
| pubmed-article:9063431 | pubmed:abstractText | To evaluate the hypothalamic-pituitary-gonadal axis in an infant with adrenal hypoplasia congenita, we measured the serum levels of testosterone and performed a luteinizing hormone-releasing hormone stimulation test. The diagnosis was made because of the presence of a mutation, A300V, in the DAX-1 gene. The results demonstrated an active hypothalamic-pituitary-gonadal axis, with adult-level testosterone of 266 ng/dl on day 0, and maintenance of testosterone concentration in the 100 to 250 ng/dl range for 140 days as expected. The luteinizing hormone-releasing hormone lest was compatible with an active pituitary gland with a luteinizing hormone peak of 13.1 IU/L and a follicle-stimulating hormone of 5.0 IU/L We conclude that the DAX-1 mutation does allow a normal reproductive axis at birth. We speculate that sometime between infancy and puberty this mutation in the DAX-1 gene leads to an inability to activate the reproductive axis from its childhood suppression; thus puberty will not develop in this infant. | lld:pubmed |
| pubmed-article:9063431 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9063431 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063431 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:9063431 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063431 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063431 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063431 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063431 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9063431 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:9063431 | pubmed:issn | 0022-3476 | lld:pubmed |
| pubmed-article:9063431 | pubmed:author | pubmed-author:TakahashiTT | lld:pubmed |
| pubmed-article:9063431 | pubmed:author | pubmed-author:TakahashiII | lld:pubmed |
| pubmed-article:9063431 | pubmed:author | pubmed-author:TakadaGG | lld:pubmed |
| pubmed-article:9063431 | pubmed:author | pubmed-author:ShojiYY | lld:pubmed |
| pubmed-article:9063431 | pubmed:author | pubmed-author:HaraguchiNN | lld:pubmed |
| pubmed-article:9063431 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9063431 | pubmed:volume | 130 | lld:pubmed |
| pubmed-article:9063431 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9063431 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9063431 | pubmed:pagination | 485-8 | lld:pubmed |
| pubmed-article:9063431 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
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| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:meshHeading | pubmed-meshheading:9063431-... | lld:pubmed |
| pubmed-article:9063431 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9063431 | pubmed:articleTitle | Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. | lld:pubmed |
| pubmed-article:9063431 | pubmed:affiliation | Department of Pediatrics, Akita University School of Medicine, Japan. | lld:pubmed |
| pubmed-article:9063431 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9063431 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:190 | entrezgene:pubmed | pubmed-article:9063431 | lld:entrezgene |
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