| Full text | |
| Author(s): |
de Calais, Flavia Leme
;
Soardi, Fernanda Caroline
;
Petroli, Reginaldo Jose
;
Gori Lusa, Ana Leticia
;
de Paiva e Silva, Roberto Benedito
;
Maciel-Guerra, Andrea Trevas
;
Guerra-Junior, Gil
;
de Mello, Maricilda Palandi
Total Authors: 8
|
| Document type: | Journal article |
| Source: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; v. 12, n. 12, p. 10-pg., 2011-12-01. |
| Abstract | |
The steroid 5 alpha-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 alpha-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 alpha-reductase type II enzyme deficiency. (AU) | |
| FAPESP's process: | 08/01964-5 - Molecular analysis of the androgen receptor gene (AR) in patients 46,XY presenting genital ambiguity and normal testosterone production |
| Grantee: | Reginaldo José Petroli |
| Support Opportunities: | Scholarships in Brazil - Master |
| FAPESP's process: | 09/08320-9 - Serching for mutations on ar and SRD5A2 genes in 46,XY newborn and pre-pubarche patients with genital ambiguity |
| Grantee: | Maricilda Palandi de Mello |
| Support Opportunities: | Regular Research Grants |