RAFAEL LOCH BATISTA
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Psiquiatria, Hospital das Clínicas, Faculdade de Medicina - Médico
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
conferenceObject Sexual Outcomes in Brazilian Patients with 46,XY DSD(2016) BATISTA, Rafael Loch; INACIO, Marlene; CUNHA, Flavia Siqueira; GOMES, Nathalia Lisboa; BRITO, Vinicius Nahime; COSTA, Elaine Frade; DOMENICO, Sorahia; MENDONCA, Berenice Bilharinho deconferenceObject Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Accordingly Gender Assignment(2016) GOMES, Nathalia; COSTA, Elaine; ZAMBONI, Aline; NISHI, Mirian; BATISTA, Rafael; CUNHA, Flavia; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, BereniceconferenceObject Final Adult Height of Patients with Disorders of Sex Development (DSD) Associated with Sex Chromosome Abnormalities 45,X/46,XY or 45,X/46,X,+Y Variants(2016) FARIA JUNIOR, J. A. D.; GOMES, N. L.; BATISTA, R. L.; MORAES, D. R.; SCALCO, R.; NISHI, M. Y.; JORGE, A. A. L.; ULTRA, M. A. M. S.; COSTA, E. M. F.; MENDONCA, B. B.; DOMENICE, S.conferenceObject Exonic Splicing Mutations by Silent Nucleotide Variation in the Androgen Receptor Gene Causes Androgen Insensitivity Syndrome(2016) BATISTA, Rafael Loch; RODRIGUES, Andreza de Santi; SILVA, Tathiana Evilen da; CUNHA, Flavia Siqueira; GOMES, Nathalia Lisboa; RODRIGUES, Daniela; DOMENICE, Sorahia; COSTA, Elaine Frade; MENDONCA, Berenice Bilharinho de- Steroid 5 alpha-reductase 2 deficiency(2016) MENDONCA, Berenice B.; BATISTA, Rafael Loch; DOMENICE, Sorahia; COSTA, Elaine M. F.; ARNHOLD, Ivo J. P.; RUSSELL, David W.; WILSON, Jean D.Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5 alpha-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5a-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency. Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex.
conferenceObject Molecular Analysis of Androgen Receptor Gene in a Cohort of Brazilian Patients with Androgen Insensitivity Syndrome(2016) BATISTA, R. L.; ANDRESA, D. S. R.; ARNHOLD, I. J. P.; CUNHA, F. S.; LISBOA, N. G.; FARIA JUNIOR, J. A. D.; COSTA, E. M. F.; DOMENICE, S.; MENDONCA, B. B.conferenceObject Targeted Massively Parallel Sequencing for the Molecular Diagnosis of 46, XY Disorders of Sex Development (DSD)(2016) GOMES, N. L.; LERARIO, A. M.; FRANCA, M. M.; NISHI, M. Y.; FUNARI, M. F.; COSTA, E. M. F.; FARIA JUNIOR, J. A. D.; BATISTA, R. L.; DOMENICE, S.; MENDONCA, B. B.