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
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- 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.
conferenceObject DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46,XY Gonadal Dysgenesis(2018) GOMES, Nathalia; SILVA, Thatiana; LERARIO, Antonio; BATISTA, Rafael Loch; FARIA JUNIOR, Jose Antonio; MORAES, Daniela; COSTA, Elaine Maria Frade; NISHI, Mirian; CARVALHO, Luciani Renata; FORCLAZ, Maria Veronica; PAPAZIAN, Regina; MARTINEZ-AGUAYO, Alejandro; PAULA, Leila Pedroso de; CARVALHO, Filomena Marino; VILAIN, Erick; BARSEGHYAN, Hayk Barseghyan; KEEGAN, Catherine; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho- 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
- Testosterone replacement in androgen insensitivity: is there an advantage?(2018) BATISTA, Rafael Loch; MENDONCA, Berenice Bilharinho
- Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis(2018) GOMES, Nathalia L.; LERARIO, Antonio Marcondes; MACHADO, Aline Zamboni; MORAES, Daniela Rodrigues de; SILVA, Thatiana Evilen da; ARNHOLD, Ivo J. P.; BATISTA, Rafael Loch; FARIA JUNIOR, Jose Antonio Diniz; COSTA, Elaine F.; NISHI, Mirian Y.; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B.BackgroundFollow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. ObjectiveTo analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation. MethodsA retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs). ResultsAge at first and last visit ranged from 0.1 to 43 and from 17 to 53years, respectively. Spontaneous puberty was observed in 57% of the patients. During follow-up, six of them had a gonadectomy (four due to female gender, and two because of a gonadal tumour). At last evaluation, five of six patients had adult male testosterone levels (median 16.7nmol/L, range 15.3-21.7nmol/L) and elevated LH and FSH levels. Germ cell tumours were found in two postpubertal patients (one with an abdominal gonad and one patient with Frasier syndrome). Molecular diagnosis was possible in 11 patients (33%). NR5A1 variants were the most prevalent molecular defects (n=6), and four of five patients harbouring them developed spontaneous puberty. Gender change was observed in four patients, two from each sex assignment group; all patients reported satisfaction with their gender at final evaluation. Sexual intercourse was reported by 81% of both gender and 82% of them reported satisfaction with their sexual lives. ConclusionSpontaneous puberty was observed in 57% of the patients with 46,XY PGD, being NR5A1 defects the most prevalent ones among all the patients and in those with spontaneous puberty. Gender change due to gender dysphoria was reported by 12% of the patients. All the patients reported satisfaction with their final gender, and most of them with their sexual life.
- Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects(2018) SILVA, Juliana M.; BATISTA, Rafael Loch; RODRIGUES, Andresa De Santi; NISHI, Mirian Y.; COSTA, Elaine M. F.; DOMENICE, Sorahia; CARVALHO, Luciani R. S.; MENDONCA, Berenice B.
- Nonfunctioning Pituitary Adenoma Recurrence and Its Relationship with Sex, Size, and Hormonal Immunohistochemical Profile(2018) BATISTA, Rafael Loch; TRARBACH, Ericka Barbosa; MARQUES, Mateus Diniz; CESCATO, Valter Angelo; SILVA, Gilberto Ochman da; HERKENHOFF, Clarissa G. Borba; CUNHA-NETO, Malebranche Berardo; MUSOLINO, Nina RosaBACKGROUND: Tumor recurrence or incomplete resection in nonfunctioning pituitary adenomas (NFPAs) is relatively common. However, predictive factors of tumor recurrence in NFPAs are not well established. We evaluated possible factors related to tumor recurrence in a large cohort of NFPAs at a single pituitary neurosurgery center. METHODS: A retrospective analysis was conducted of medical records of patients with NFPAs treated by transsphenoidal surgery between 2000 and 2014. RESULTS: Among the participants, 210 were female A total of 14.1% had giant adenomas. Null-cell pituitary adenomas (n = 239; 58.9%) were the most frequent, followed by silent gonadotroph adenomas (n = 112; 27.3%). Null-cell adenomas were more frequent in women (P = 0.008) and silent gonadotroph adenomas were more frequent in men (P = 0.004). Recurrence was not related to sex or age. Tumor recurrence occurred more often among silent corticotropic adenomas and giant adenomas (hazard ratio 2.45; P < 0.0001 and hazard ratio 2.35; P = 0.001, respectively). Silent thyrotrophic adenoma presented a comparable frequency of recurrence of silent corticotropic adenomas, despite having borderline significance (P = 0.07). CONCLUSIONS: NFPA tumors have a high heterogeneous hormonal profile and may have prognostic importance. Silent corticotropic adenomas and giant adenomas present a high rate of recurrence.
- Androgen insensitivity syndrome: a review(2018) BATISTA, Rafael Loch; COSTA, Elaine M. Frade; RODRIGUES, Andresa de Santi; GOMES, Nathalia Lisboa; FARIA JR., Jose Antonio; NISHI, Mirian Y.; ARNHOLD, Ivo Jorge Prado; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho deAndrogenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46, XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.