Source:http://linkedlifedata.com/resource/pubmed/id/18391525
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
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| pubmed:dateCreated |
2008-4-8
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| pubmed:abstractText |
5Alpha-reductase-2 deficiency is a rare autosomal recessive form of 46,XY disorders of sex differentiation (DSD), caused by mutations in the steroid 5alpha-reductase type 2 gene (SRD5A2), presenting at birth with variable degrees of undervirilization. We report on three Italian newborns with 46,XY DSD in whom the evaluation of testosterone, dihydrotestosterone, testosterone/dihydrotestosterone (T/DHT) ratio and molecular analysis of the 5alpha-reductase type 2 gene was made in their first month of life. Baseline T/DHT ratio suggested 5alpha-reductase-2 deficiency; the diagnosis was confirmed by molecular genetics (homozygous mutation in exon 4 [G196S], heterozygous mutation in exon 1 and 5 [W35X/Y235F], heterozygous mutation plus polymorphism in exon 1 [G34W/A49T]). Proper investigation permitted early reassignment to male sex in two babies, assigned to female sex just after birth. In infancy, the T/DHT ratio, assessed by suitable assay methods and evaluated by age-appropriate reference values, seems to be able to select newborns affected by 5alpha-reductase-2 deficiency. Molecular analysis of the SRD5A2 gene should be warranted in newborns with abnormal ratio before sex assignment.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:issn |
1661-5433
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| pubmed:author | |
| pubmed:copyrightInfo |
2007 S. Karger AG, Basel
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| pubmed:issnType |
Electronic
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| pubmed:volume |
1
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
147-51
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading | |
| pubmed:year |
2007
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| pubmed:articleTitle |
Early diagnosis of 5alpha-reductase deficiency in newborns.
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| pubmed:affiliation |
Adolescent Medicine Unit, Division of Pediatrics, S. Chiara Hospital, University of Pisa, Pisa, Italy. s.bertelloni@med.unipi.it
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| pubmed:publicationType |
Journal Article
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