ELAINE MARIA FRADE COSTA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
4 resultados
Resultados de Busca
Agora exibindo 1 - 4 de 4
- DSD Due to 5 alpha-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome(2012) COSTA, Elaine M. F.; DOMENICE, Sorahia; SIRCILI, Maria Helena; INACIO, Marlene; MENDONCA, Berenice B.Most of the patients with 5 alpha-RD 2 deficiency are reared in the female social sex due to their severely undervirilized external genitalia but similar to 60% who have not been submitted to orchiectomy in childhood undergo male social sex change at puberty. In our cohort of 30 cases from 18 families, all subjects were registered in the female social sex except for two children-one who had an affected uncle and the other who was diagnosed before being registered. The majority of the patients were satisfied with the long-term results of their treatment and surprisingly, penile length was not associated with satisfactory or unsatisfactory sexual activity. Steroid 5 alpha-RD2 deficiency should be included in the differential diagnosis of all newborns with 46,XY DSD with normal testosterone production before gender assignment or any surgical intervention because these patients should be considered males at birth.
- Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis(2012) MACHADO, Aline Zamboni; SILVA, Thatiana Evilen da; COSTA, Elaine Maria Frade; SANTOS, Mariza Gerdulo dos; NISHI, Mirian Yumie; BRITO, Vinicius Nahime; MENDONCA, Berenice Bilharinho; DOMENICE, SorahiaDespite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 are among this group of genes. Dmrt1 controls germ cell differentiation, proliferation, migration and pluripotency and Sertoli cell proliferation and differentiation. Fgf9 has been considered a critical factor in early testicular development and germ cell survival in mice. We screened for the presence of DMRT1 and FGF9 mutations in 33 patients with 46,XY gonadal dysgenesis. No deletions in either DMRT1 or FGF9 were identified using the MLPA technique. Eight allelic variants of DMRT1 were identified, and in silico analysis suggested that the novel c.968-15insTTCTCTCT variant and the c.774G>C (rs146975077) variant could have potentially deleterious effects on the DMRT1 protein. Nine previously described FGF9 allelic variants and six different alleles of the 3' UTR microsatellite were identified. However, none of these DMRT1 or FGF9 variants was associated with increased 46,XY gonadal dysgenesis. In conclusion, our study suggests that neither DMRT1 nor FGF9 abnormalities are frequently involved in dysgenetic male gonad development in patients with non-syndromic 46,XY disorder of sex development. (C) 2012 Published by Elsevier Masson SAS.
- GONADAL TUMOR DETECTION AND TREATMENT IN PATIENTS WITH DISORDER OF SEX DEVELOPMENT (DSD): LONG-TERM ONCOLOGICAL OUTCOMES(2012) OLIVEIRA, Lorena; MACHADO, Marcos; MARCHINI, Giovanni; TAVARES, Alessandro; SIRCILI, Maria Helena; DOMENICE, Sorahia; COSTA, Elaine; DENES, Francisco; MENDONCA, Berenice; SROUGI, Miguel
- Analysis of anti-Mullerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Mullerian duct syndrome(2012) NISHI, Mirian Yumie; DOMENICE, Sorahia; MACIEL-GUERRA, Andrea Trevas; ZABA NETO, Alberto; SILVA, Marcia Alessandra Cavalaro Pereira da; COSTA, Elaine Maria Frade; GUERRA-JUNIOR, Gil; MENDONCA, Berenice Bilharinho deObjective: To screen for mutations in AMH and AMHR2 genes in patients with persistent Mullerian duct syndrome (PMDS). Patients and method: Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. Results: The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, and p. Arg502Leu were identified in five patients; and p.Gly323Ser and p.Arg407* in AMHR2 of two individuals. In silico analyses of the novel c.556-2A>G, p.Arg502Leu and p.Arg407* mutations predicted that they were harmful and were possible causes of the disease. Conclusion: A likely molecular etiology was found in the eight evaluated patients with PMDS. Four mutations in AMH and two in AMHR2 were identified. Three of them are novel mutations, c.556-2A>G, and p. Arg502Leu in AMH; and p.Gly323Ser in AMHR2.