Artículos de revistas
Molecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development
Registro en:
International Journal Of Molecular Sciences. , v. 12, n. 12, p. 9471 - 9480, 2011.
14220067
10.3390/ijms12129471
2-s2.0-84055200097
Autor
de Calais F.L.
Soardi F.C.
Petroli R.J.
Lusa A.L.G.
de Paiva e Silva R.B.
Maciel-Guerra A.T.
Guerra-Junior G.
de Mello M.P.
Institución
Resumen
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. 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