Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199738
Type: Artigo de periódico
Title: Molecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development.
Author: Leme de Calais, Flávia Leme
Soardi, Fernanda Caroline
Petroli, Reginaldo José
Lusa, Ana Letícia Gori
de Paiva E Silva, Roberto Benedito
Maciel-Guerra, Andréa Trevas
Guerra-Júnior, Gil
de Mello, Maricilda Palandi
Abstract: The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2) was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the patients were homozygous for p.Gln126Arg missense mutation, which results from the CGA > CAA nucleotide substitution. The molecular result confirmed clinical diagnosis of 46,XY disorder of sex development (DSD) for the older sister and directed the investigation to other family members. Studies on SRD5A2 protein structure showed severe changes at NADPH binding region indicating that structural modeling analysis can be useful to evaluate the deleterious role of a mutation as causing 5α-reductase type II enzyme deficiency.
Subject: 3-oxo-5-alpha-steroid 4-dehydrogenase
46, Xy Disorders Of Sex Development
Adolescent
Amino Acid Sequence
Binding Sites
Brazil
Child
Female
Homozygote
Humans
Membrane Proteins
Molecular Sequence Data
Mutation, Missense
Pedigree
Srd5a2 Deficiency
Srd5a2 Gene Mutations
Structural Analysis
Rights: aberto
Identifier DOI: 10.3390/ijms12129471
Address: http://www.ncbi.nlm.nih.gov/pubmed/22272144
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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