Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Int J Mol Sci
; 12(12): 9471-80, 2011.
Article
en En
| MEDLINE
| ID: mdl-22272144
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa
/
Mutación Missense
/
Trastorno del Desarrollo Sexual 46,XY
/
Proteínas de la Membrana
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Int J Mol Sci
Año:
2011
Tipo del documento:
Article
País de afiliación:
Brasil