MARIA HELENA PALMA SIRCILI
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
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
10 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 10
- Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life(2019) WISNIEWSKI, Amy B.; BATISTA, Rafael L.; COSTA, Elaine M. F.; FINLAYSON, Courtney; SIRCILI, Maria Helena Palma; DENES, Francisco Tibor; DOMENICE, Sorahia; MENDONCA, Berenice B.Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensusmeeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.
- 46,XY DSD due to 17 beta-HSD3 Deficiency and 5 alpha-Reductase Type 2 Deficiency(2011) INACIO, Marlene; SIRCILI, Maria Helena P.; BRITO, Vinicius N.; DOMENICE, Sorahia; OLIVEIRA-JUNIOR, Ari Alves; ARNHOLD, Ivo J. P.; TIBOR, Francisco D.; COSTA, Elaine M. F.; MENDONCA, Berenice B.
conferenceObject GnRH Analogue's Use in the Diagnostic Approach of Patients with Suspected 46,XX Ovotesticular Disorders of Sex Development(2014) PELAES, Tatiana S.; SANTANA, Nathalie Oliveira; SILVA, Rosana Barbosa; COSTA, Elaine Maria Frade; SIRCILI, Maria Helena Palma; CUNHA, Flavia Siqueira; MENDONCA, Berenice B.; DOMENICE, SorahiaconferenceObject Final adult height in SRY-negative 46, XX ovotesticular differences of sex development individuals(2019) FERRARI, Maria Tereza Martins; RODRIGUES, Daniela Moraes; GOMES, Nathalia Lisboa; NISHI, Mirian Yumi; BATISTA, Rafael Loch; COSTA, Elaine Maria Frade; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia; CRUZ, Patricia Sales Marques; SIRCILI, Maria HelenaconferenceObject Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures(2021) LOUSADA, Lia; DOMENICE, Sorahia; COSTA, Elaine M. F.; BACHEGA, Tania A. S. S.; MADUREIRA, Guiomar; INACIO, Marlene; SIRCILI, Maria Helena P.; DENES, Francisco T.; MENDONCA, Berenice B.- Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre(2015) AMARAL, Rita Cassia; INACIO, Marlene; BRITO, Vinicius N.; BACHEGA, Tania A. S. S.; OLIVEIRA JR., Ari A.; DOMENICE, Sorahia; DENES, Francisco T.; SIRCILI, Maria Helena; ARNHOLD, Ivo J. P.; MADUREIRA, Guiomar; GOMES, Larissa; COSTA, Elaine M. F.; MENDONCA, Berenice B.ObjectiveFew studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD). Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre. Patients and MethodsAdult patients with DSD (56 patients with 46,XX DSD - 49 with female social sex and 7 with male social sex as well as 88 patients with 46,XY DSD - 54 with female social sex and 34 with male social sex). MeasurementsQoL using WHOQOL-Bref questionnaire. ResultsBoth patients with 46,XX DSD and patients with 46,XY DSD had similar QoL scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. The chronological age at the start of treatment was negatively and significantly associated with general QoL score. Patients with male social sex DSD had better scores on the psychological domain than patients with female social sex DSD, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better QoL compared with the female social sex patients. There was a positive and significant correlation between sexual performance and general QoL, although it explained only 4% of the variability of the general QoL score. The most influencing variables were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general QoL score. ConclusionOur large cohort of adult patients with DSD, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of patients with DSD, whereas sexual performance has little influence on QoL.
conferenceObject Large spectrum of DSD phenotype caused by pathogenic variants in Wilms tumor suppressor gene 1(2019) FERRARI, Maria Tereza Martins; DOMENICE, Sorahia; MENDONCA, Berenice Bilharino; MORAES, Daniela Rodrigues; BATISTA, Rafael Loch; GOMES, Nathalia Lisboa; NISHI, Mirian Yumie; SIRCILI, Maria Helena; PAULA, Tatiana Evelin; COSTA, Eduardo; COSTA, Elaine Maria FradeconferenceObject Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan(2023) BATISTA, Rafael; GOMES, Nathalia; BACHEGA, Tania; MADUREIRA, Guiomar; MIRANDA, Mirela; DALLAGO, Renata; TERESA, Maria; LOUSADA, Ferrari Lia; CRAVEIRO, Flora; BATATINHA, Julio; SCALCO, Renata; JORGE, Alexander; COSTA, Elaine; SIRCILI, Maria Helena; DENES, Francisco; INACIO, Marlene; NISHI, Mirian; DOMENICE, Sorahia; MENDONCA, Berenice- Arterial Stiffness in Transgender Men Receiving Long-term Testosterone Therapy(2023) CUNHA, Flavia Siqueira; BACHEGA, Tania Aparecida Sanchez; COSTA, Elaine Maria Frade; BRITO, Vinicius Nahime; ALVARES, Leonardo Azevedo; COSTA-HONG, Valeria Aparecida; VERARDINO, Renata Gomes Sanches; SIRCILI, Maria Helena Palma; MENDONCA, Berenice Bilharinho de; BORTOLOTTO, Luiz Aparecido; DOMENICE, SorahiaContext: The effects of androgen therapy on arterial function in transgender men (TM) are not fully understood, particularly concerning long-term androgen treatment. Objective: To evaluate arterial stiffness in TM receiving long-term gender-affirming hormone therapy by carotid-femoral pulse wave velocity (cf-PWV). Methods: A cross-sectional case-control study at the Gender Dysphoria Unit of the Division of Endocrinology, HC-FMUSP, Sao Paulo, Brazil. Thirty-three TM receiving intramuscular testosterone esters as regular treatment for an average time of 14 +/- 8 years were compared with 111 healthy cisgender men and women controls matched for age and body mass index. Aortic stiffness was evaluated by cf-PWV measurements using Complior device post-testosterone therapy. The main outcome measure was aortic stiffness by cf-PWV as a cardiovascular risk marker in TM and control group. Results: The cf-PWV after long-term testosterone therapy was significantly higher in TM (7.4 +/- 0.9 m/s; range 5.8-8.9 m/s) than in cisgender men (6.6 +/- 1.0 m/s; range 3.8-9.0 m/s, P <.01) and cisgender women controls (6.9 +/-.9 m/s; range 4.8-9.1 m/s, P =.02). The cf-PWV was significantly and positively correlated with age. Analysis using blood pressure as a covariate showed a significant relationship between TM systolic blood pressure (SBP) and cf-PWV in relation to cisgender women but not to cisgender men. Age, SBP, and diagnosis of hypertension were independently associated with cf-PWV in the TM group. Conclusion: The TM group on long-term treatment with testosterone had higher aging-related aortic stiffening than the control groups. These findings indicate that aortic stiffness might be accelerated in the TM group receiving gender-affirming hormone treatment, and suggest a potential deleterious effect of testosterone on arterial function. Preventive measures in TM individuals receiving testosterone treatment, who are at higher risk for cardiovascular events, are highly recommended.
- Impact of schooling in the HIV/AIDS prevalence among Brazilian transgender women(2020) BATISTA, Rafael Loch; VERDUGUEZ, Elisa dal Rosario; INACIO, Marlene; CUNHA, Flavia Siqueira; MARQUES, Mateus Diniz; GOMES, Natalia Lisboa Rosa Almeida; JR, Jose Antonio D. Faris; SIRCILI, Maria Helena Palma; MENDONCA, Berenice B.; COSTA, Elaine M. Frade; DOMENICE, SorahiaObjective: Discrimination and bullying are common conditions among LGBT people. During schooling, these practices compromising education.The aim of this study is to evaluate educational attainment among Brazilian transgender women (TW) and how their education level affects the risk of HIV infection. Study design: a cross-sectional population-based study. Subjects and methods: 95 adultTW were selected. Information concerning verbal and physical aggression, school dropout, school years (SY), and educational level were assessed. HIV status was screened using a fourth-generation immunoassay followed by western blot testing. Results: The mean of SY was 9.1 +/- 3.8 ys. The mean age at school dropout was 16.3 +/- 3.4 ys old. Verbal aggression was reported by 83%, physical by 48%, and 18% of the TW dropped out school immediately after being physically assaulted. Participants who suffered physical aggression attended school for almost 4 years less than those participants who did not suffer this abuse (OR = -3.96, p < 0.0001). A similar result was found for verbal aggression (OR = -4.35; p <0.0001). HIV/AIDS prevalence was 18% (n = 17).The mean of SY among HIV/AIDS positive and negative individuals were 6.8 +/- 43 versus 9.7 +/- 3, respectively (p = 0.004). Lower education was associated with higher frequency of HIV/AIDS amongTW and this relationship was sustained after adjustment for injectable drug use and sex work (OR = 0.79, p = 0.04). Conclusion: Among Brazilian TW, lower education level was a risk factor associated with HIV. The reasons for low schooling amongTW are multifactorial, but verbal and physical harassment strongly contribute for it.