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Molecular diagnosis of 5?-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

ABSTRACT: The steroid 5?-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 5?-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 5?-reductase type II enzyme deficiency.

SUBMITTER: Leme de Calais FL 

PROVIDER: S-EPMC3257141 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

Leme de Calais Flávia Leme FL   Soardi Fernanda Caroline FC   Petroli Reginaldo José RJ   Lusa Ana Letícia Gori AL   de Paiva E Silva Roberto Benedito RB   Maciel-Guerra Andréa Trevas AT   Guerra-Júnior Gil G   de Mello Maricilda Palandi MP  

International journal of molecular sciences 20111219 12

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  ...[more]

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