Linked Life Data

9745434

Source:http://linkedlifedata.com/resource/pubmed/id/9745434

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1998-10-8
pubmed:abstractText
The molecular background of 5 alpha-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. The three male siblings were born with ambiguous external genitalia, and the diagnosis of 5 alpha-reductase deficiency was established at the ages of 16, 14, and 10 yr, respectively. All three siblings underwent surgery for hypospadias repair. At least two of the brothers are demonstrably fertile. Molecular analysis showed the three brothers to be compound heterozygotes, carrying two different mutations in exon 4 of the 5 alpha-reductase type 2 gene. The two mutations (G196S and H231R) have been described previously and reported to give rise to partially functioning enzymes, which may explain the milder phenotype and perhaps the fertility in the preset three patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0021-972X
pubmed:author
pubmed:issnType
Print
pubmed:volume
83
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3236-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
pubmed:affiliation
Department of Molecular Medicine, Karolinska Hospital/St. Görans Hospital, Stockholm, Sweden. agneta.nordenskjold@cmm.ki.se
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't