ANDRESA DE SANTI RODRIGUES
Índice h a partir de 2011
7
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
18 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 18
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor(2018) BATISTA, Rafael Loch; RODRIGUES, Andresa De Santi; MACHADO, Aline Zamboni; NISHI, Mirian Yumie; CUNHA, Flavia Siqueira; SILVA, Rosana Barbosa; COSTA, Elaine M. F.; MENDONCA, Berenice B.; DOMENICE, SorahiaBackground: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46, XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. Case presentation: In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Conclusions: Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.
- Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY Karyotype(2017) BATISTA, Rafael L.; RODRIGUES, Andresa S.; NISHI, Mirian Y.; FEITOSA, Alina C. R.; GOMES, Nathalia L. R. A.; JUNIOR, Jose Antonio F.; DOMENICE, Sorahia; COSTA, Elaine M. F.; MENDONCA, Berenice B. deThere are only 2 patients with 47, XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47, XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X-inactivation of the healthy allele. This is the first report of a female patient with 47, XXY karyotype and PAIS phenotype. (C) 2017 S.Karger AG, Basel
conferenceObject Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program(2016) MIRANDA, Mirela; SANTOS, Eliane dos; CARVALHO, Daniel de; RODRIGUES, Andressa; NADER, Ivana; AMELIO JUNIOR, Joao; MENDONCA, Berenice; BACHEGA, TaniaconferenceObject Gonadal Tumor Risk, Bone Mineral Density, and Genetics, Clinical, Hormonal, and Psychosexual Aspects of a Large Androgen Insensitivity Syndrome Cohort(2021) BATISTA, Rafael Loch; RAMOS, Raquel Martinez; NISHI, Miriam; DALLAGO, Renata; ELIAS, Felipe; RODRIGUES, Andresa di Santi; DOMENICE, Sorahia; MENDONCA, Berenice B.- A SEVERE PHENOTYPE OF KENNEDY DISEASE ASSOCIATED WITH A VERY LARGE CAG REPEAT EXPANSION(2018) MADEIRA, Joao L. O.; SOUZA, Alexandre B. C.; CUNHA, Flavia S.; BATISTA, Rafael L.; GOMES, Nathalia L.; RODRIGUES, Andresa S.; JORGE, Frederico Mennucci de Haidar; CHADI, Gerson; CALLEGARO, Dagoberto; MENDONCA, Berenice B.; COSTA, Elaine M. F.; DOMENICE, Sorahia
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening(2019) CASTRO, Patricia S.; RASSI, Tatiana O.; ARAUJO, Raquel F.; PEZZUTI, Isabela L.; RODRIGUES, Andresa S.; BACHEGA, Tania A. S. S.; SILVA, Ivani N.Background: Early diagnosis after newborn screening (NBS) for congenital adrenal hyperplasia (CAH) allows proper treatment, reducing mortality rates and preventing development of hyperandrogenic manifestations and incorrect sex assignment at birth. Despite the high NBS sensitivity to detect CAH classical forms, one of the main issues is identifying asymptomatic children who remained with increased 17-hydroxyprogesterone (17-OHP) levels. In this study, we aimed to contribute to understanding the diagnosis of these children. Methods: Children with increased serum 17-OHP levels, and without disease-related clinical features during follow-up, underwent the entire CYP21A2 gene sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis (SALSA MLPA P050B CAH). Patients' genotypes were subsequently sorted as compatible with CAH disease, and children were evaluated to determine the clinical status. Results: During the study period, 106,476 newborns underwent CAH NBS. During follow-up, 328 children (0.3%) were identified as having false-positive tests and 295 were discharged after presenting with 17-OHP levels within reference values. Thirty-three remained asymptomatic and with increased serum 17-OHP levels after a mean follow-up of 3.4 years, and were subjected to molecular analysis. Seventeen out of the 33 children carried mutations: seven in the heterozygous state, nine carried non-classical genotypes and the remaining child carried a classical genotype. Conclusions: We found a high frequency of non-classical CAH (NCCAH) diagnosis among children with persistent elevation of 17-OHP levels. Our findings support molecular study as decisive for elucidating diagnosis in these asymptomatic children. Molecular analysis as a confirmatory test is relevant to guide their follow-up, allows genetic counseling and avoids over treating NCCAH form.
conferenceObject Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort(2015) MIRANDA, M.; CARVALHO, D.; GOMES, L.; MADUREIRA, G.; RODRIGUES, A.; MENDONCA, B.; BACHEGA, T.conferenceObject Isolated Growth Hormone Deficiency with Advanced Bone Age: Phenotypic Interaction between GHRH Receptor and CYP21A2 Mutations Diagnosed by Sanger and Whole Exome Sequencing(2016) CORREA, F. A.; FRANCA, M. M.; FANG, Q.; MA, Q.; OZEL, B. A.; BACHEGA, T. A.; RODRIGUES, A.; LI, J. Z.; MENDONCA, B. B.; JORGE, A. A. L.; CARVALHO, L. R.; CAMPER, S. A.; ARNHOLD, I. J. P.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 deconferenceObject The pre- and postnatal influence of androgens in the psychosexual development of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency(2023) BATISTA, Rafael Loch; INACIO, Marlene; MADUREIRA, Guiomar; MIRANDA, Mirela; GOMES, Larissa; RODRIGUES, Andresa; FUNARI, Mariana; BACHEGA, Tania; MENDONCA, Berenice Bilharinho