Article: Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family

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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
2011 Impact Factor: 0.875
2011 SCImago Journal Rankings: 0.069
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 0.875
2011 SCImago Journal Rankings: 0.069
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
Author Affiliations
  1. Queen Elizabeth Hospital Hong Kong
  2. Prince of Wales Hospital Hong Kong
  3. Chinese University of Hong Kong