File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family
  • Basic View
  • Metadata View
  • XML View
TitleSteroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family
 
AuthorsLee, CY3
Lam, CW2
Shek, CC1
 
KeywordsMutation
Srd5a2
Steroid 5Α-Reductase 2 Deficiency
 
Issue Date2003
 
PublisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm
 
CitationJournal Of Pediatric Endocrinology And Metabolism, 2003, v. 16 n. 8, p. 1197-1201 [How to Cite?]
 
AbstractWe report a Chinese family in which two family members were diagnosed to have steroid 5α-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5α-reductase 2 deficiency with identified molecular defects.
 
ISSN0334-018X
2012 Impact Factor: 0.747
2012 SCImago Journal Rankings: 0.321
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLee, CY
 
dc.contributor.authorLam, CW
 
dc.contributor.authorShek, CC
 
dc.date.accessioned2012-05-29T06:12:28Z
 
dc.date.available2012-05-29T06:12:28Z
 
dc.date.issued2003
 
dc.description.abstractWe report a Chinese family in which two family members were diagnosed to have steroid 5α-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5α-reductase 2 deficiency with identified molecular defects.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationJournal Of Pediatric Endocrinology And Metabolism, 2003, v. 16 n. 8, p. 1197-1201 [How to Cite?]
 
dc.identifier.epage1201
 
dc.identifier.issn0334-018X
2012 Impact Factor: 0.747
2012 SCImago Journal Rankings: 0.321
 
dc.identifier.issue8
 
dc.identifier.scopuseid_2-s2.0-0242288533
 
dc.identifier.spage1197
 
dc.identifier.urihttp://hdl.handle.net/10722/148359
 
dc.identifier.volume16
 
dc.languageeng
 
dc.publisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm
 
dc.publisher.placeIsrael
 
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolism
 
dc.relation.referencesReferences in Scopus
 
dc.subjectMutation
 
dc.subjectSrd5a2
 
dc.subjectSteroid 5Α-Reductase 2 Deficiency
 
dc.titleSteroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family
 
dc.typeArticle
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Lee, CY</contributor.author>
<contributor.author>Lam, CW</contributor.author>
<contributor.author>Shek, CC</contributor.author>
<date.accessioned>2012-05-29T06:12:28Z</date.accessioned>
<date.available>2012-05-29T06:12:28Z</date.available>
<date.issued>2003</date.issued>
<identifier.citation>Journal Of Pediatric Endocrinology And Metabolism, 2003, v. 16 n. 8, p. 1197-1201</identifier.citation>
<identifier.issn>0334-018X</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/148359</identifier.uri>
<description.abstract>We report a Chinese family in which two family members were diagnosed to have steroid 5&#945;-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5&#945;-reductase 2 deficiency with identified molecular defects.</description.abstract>
<language>eng</language>
<publisher>Freund Publishing House, Ltd. The Journal&apos;s web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm</publisher>
<relation.ispartof>Journal of Pediatric Endocrinology and Metabolism</relation.ispartof>
<subject>Mutation</subject>
<subject>Srd5a2</subject>
<subject>Steroid 5&#913;-Reductase 2 Deficiency</subject>
<title>Steroid 5&#945;-reductase 2 deficiency in two generations of a non-consaguineous Chinese family</title>
<type>Article</type>
<description.nature>Link_to_subscribed_fulltext</description.nature>
<identifier.scopus>eid_2-s2.0-0242288533</identifier.scopus>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-0242288533&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>16</identifier.volume>
<identifier.issue>8</identifier.issue>
<identifier.spage>1197</identifier.spage>
<identifier.epage>1201</identifier.epage>
<publisher.place>Israel</publisher.place>
</item>
Author Affiliations
  1. Queen Elizabeth Hospital Hong Kong
  2. Prince of Wales Hospital Hong Kong
  3. Chinese University of Hong Kong