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
13 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 13
conferenceObject 46,XY Partial gonadal dysgenesis; diagnosis and long-term outcome at puberty(2022) CUCCARO, Rieko Tadokoro; HUGHES, Ieuan; COOLS, Martine; VIJVER, Koen van de; MENDONCA, Berenice Bilharinho de; DOMENICE, Sorahia; BATISTA, Rafael L.; DALLAGO, Renata Thomazini; GOMES, Nathalia Lisboa; COSTA, Elaine F.; MACIEL-GUERRA, Andrea T.; GUERRA-JUNIOR, Gil; ANDRADE, Juliana Gabriel Ribeiro de; LUCAS-HERALD, Angela; BRYCE, Jillian; HANNEMA, Sabine; JUUL, Anders; GLOBA, Eugenia; ELREAVEY, Kenneth M.; BARONIO, Federico; DACAL, Jimena Lopez; DARENDELILER, Feyza; POYRAZOGLU, Sukran; KOLESINSKA, Zofia; NIEDZIELA, Marek; CLAAHSEN, Hedi; AKKER, Erica L. T. van den; HERRMANN, Gloria; ATAPATTU, Navoda; JAIN, Vandana; SHARMA, Rajni; BETTERDORF, Markus; KONRAD, Daniel; HOLTERHUS, Paul Martin; FICA, Simona; SKAE, Mars; RUSSO, Gianni; STANCAMPIANO, Marianna Rita; GAZDAGH, Gabriella; DAVIES, Justin H.; MOHAMED, Zainaba; SENEVIRATNE, Sumudu Nimali; GURAN, Tulay; GUVEN, Ayla; WASNIEWSKA, Malgorzata; MLADENOV, Vilhelm; VERKAUSKAS, Gilvydas; MARKOSYAN, Renata; KORBONITS, Marta; HIORT, Olaf; WAGNER, IsabelViola; AHMED, S. Faisal; THANKAMONY, Ajay- Single and mixed exposure to distinct groups of pesticides suggests endocrine disrupting properties of imidacloprid in zebrafish embryos(2023) SANTIAGO, Magda Regina; SALVO, Ligia Maria; BADARO-PEDROSO, Cintia; COSTA, Elaine Maria FradeDue to their selective toxicity to insects, nicotinoid compounds have been widely used to control pests in crops and livestock around the world. However, despite the advantages presented, much has been discussed about their harmful effects on exposed organisms, either directly or indirectly, with regards to endocrine disruption. This study aimed to evaluate the lethal and sublethal effects of imidacloprid (IMD) and abamectin (ABA) formulations, separately and combined, on zebrafish (Danio rerio) embryos at different developmental stages. For this, Fish Embryo Toxicity (FET) tests were carried out, exposing two hours post-fertilization (hpf) zebrafish to 96 hours of treatments with five different concentrations of abamectin (0.5-11.7 mg L-1), imidacloprid (0.0001-1.0 mg L-1), and imidacloprid/abamectin mixtures (LC50/2 - LC50/1000). The results showed that IMD and ABA caused toxic effects in zebrafish embryos. Significant effects were observed regarding egg coagulation, pericardial edema, and lack of larvae hatching. However, unlike ABA, the IMD dose-response curve for mortality had a bell curve display, where medium doses caused more mortality than higher and lower doses. These data demonstrate the toxic influence of sublethal IMD and ABA concentrations on zebrafish, suggesting that these compounds should be listed for river and reservoir water-quality monitoring.
conferenceObject Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study(2022) TADOKORO-CUCCARO, Rieko; HUGHES, Ieuan; COOLS, Martine; VIJVER, Koen van de; MENDONCA, Berenice Bilharinho de; DOMENICE, Sorahia; BATISTA, Rafael L.; DALLAGO, Renata Thomazini; GOMES, Nathalia Lisboa; COSTA, Elaine F.; MACIEL-GUERRA, Andrea T.; GUERRA-JUNIOR, Gil; ANDRADE, Juliana Gabriel Ribeiro de; LUCAS-HERALD, Angela; BRYCE, Jillian; HANNEMA, Sabine; JUUL, Anders; GLOBA, Eugenia; ELREAVEY, Kenneth M.; BARONIO, Federico; DACAL, Jimena Lopez; DARENDELILER, Feyza; POYRAZOGLU, Sukran; KOLESINSKA, Zofia; NIEDZIELA, Marek; GRINTEN, Hedi L. Claahsen-van der; AKKE, Erica L. T. van den; HERRMANN, Gloria; ATAPATTU, Navoda; JAIN, Vandana; SHARMA, Rajni; BETTENDORF, Markus; KONRAD, Daniel; HOLTERHUS, Paul Martin; FICA, Simona; SKAE, Mars; RUSSO, Gianni; STANCAMPIANO, Marianna Rita; GAZDAGH, Gabriella; DAVIES, Justin H.; MOHAMED, Zainaba; SENEVIRATNE, Sumudu Nimali; GURAN, Tulay; GUVEN, Ayla; WASNIEWSKA, Malgorzata; MLADENOV, Vilhelm; VERKAUSKAS, Gilvydas; MARKOSYAN, Renata; KORBONITS, Marta; AHMED, S. Faisal; HIORT, Olaf; WAGNER, Isabel; THANKAMONY, Ajay- TRANSSEXUAL GENITAL SURGERY: COMPLICATIONS AND FUNCTIONAL RESULTS AFTER 13 YEARS OF EXPERIENCE(2013) SIRCILI, Maria Helena; DENES, Francisco Tibor; TAVARES, Alessandro; COSTA, Elaine Maria Frade; DOMENICE, Sorahia; CUNHA, Flavia Siqueira; SROUGI, Miguel; MENDONCA, Berenice
- Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development(2022) ELIAS, Felipe Martins; NISHI, Mirian Yumi; SIRCILI, Maria Helena Palma; BASTISTA, Rafael Loch; GOMES, Nathalia Lisboa; FERRARI, Maria Tereza Martins; COSTA, Elaine Maria Frade; DENES, Francisco Tibor; MENDONCA, Berenice Bilharinho; DOMENICE, SorahiaBackground: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR-210 in 46,XY DSD patients who presented atypical genitalia at birth. Methods: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR-210 and reference miR-23a were measured using RT-qPCR and the data were analysed by the 2(-Delta Ct) method. Results: MiR-210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR-210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR-210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR-210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. Conclusion: Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD.
- Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development(2023) BATISTA, Rafael Loch; INACIO, Marlene; BRITO, Vinicius Nahime; SIRCILI, Maria Helena Palma; BAG, Min Jeong; GOMES, Nathalia Lisboa; COSTA, Elaine Maria Frade; DOMENICE, Sorahia; MENDONCA, Berenice BilharinhoObjective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 females; 44 males) from a Single Brazilian Tertiary-Care Medical Center. Results: Sexual fantasies and masturbation were more frequent in 46, XY DSD males, whereas orgasm and sexual life satisfaction were similar in both genders. More 46, XY DSD men than women had a long-term romantic relationship. 46, XY DSD women with prenatal androgen exposure reported more fear of being romantically rejected. External genitalia appearance at birth did not impact the sexuality of 46, XY DSD women after surgical genital treatment had been completed. Overall, the sexual life was similar between 46, XY men assigned as males and those who changed to the male gender. Regarding sexual orientation, most self-reported as heterosexual (91% and 92% of women and men, respectively). The desire for fertility had a similar prevalence in both genders, but more women than men considered infertility a barrier to a long-term romantic relationship. Twelve individuals (7 males) had children; 10 out of 12 have adopted children. Conclusion: Fertility desire was shared among 46, XY DSD people, regardless of gender. Prenatal androgen exposure reduced the desire for motherhood in 46, XY women. 46, XY DSD people who changed from female to male gender presented similar sexual parameters as those assigned as males. Among females, virilized genitalia at birth did not affect sexuality once the surgical treatment is completed.
conferenceObject Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures(2023) LOUSADA, Lia; DOMENICE, Sorahia; COSTA, Elaine; BACHEGA, Tania; BATISTA, Rafael; MENDONCA, Berenice- Marijuana Is Associated With a Hormonal Imbalance Among Several Habits Related to Male Infertility: A Retrospective Study(2022) TEIXEIRA, Thiago A.; IORI, Ivan; ANDRADE, Gustavo; SALDIVA, Paulo H. N.; DREVET, Joel R.; COSTA, Elaine M. F.; HALLAK, JorgeMarijuana is one of the most consumed drugs worldwide. There is increasing evidence of an association between marijuana and male infertility. This study intends to assess the repercussion of marijuana smoking and other habits (sedentary lifestyle, alcohol, and tobacco use) in the testicular function of infertile men seeking andrological evaluation. A retrospective study was performed using medical records data of men aged 18-59 years from 2009 to 2017. Complete semen analyses, sperm functional tests, SHBG, and hormonal levels, testosterone-to-estradiol ratio (T/E-2), and testis volume were evaluated. Exclusion criteria included cryptorchidism, infertility caused by genetic or infectious diseases, and cancer. A multiple linear regression analysis was performed to investigate which habit could predict certain parameters using the software SPSS 23.0 (P < 0.05). In a sample of 153 men, semen parameters, testosterone levels, and testis volume were not significantly influenced. Marijuana use had the broader hormonal changes since it influences estradiol (P = 0.000; B = -11.616), prolactin (P = 0.000; B = 3.211), SHBG levels (P = 0.017; B = 7.489), and T/E-2 (P = 0.004; B = 14.030). Sedentary lifestyle (P = 0.028; B = 1.279) and tobacco smoking (P = 0.031; B = -2.401) influenced the prolactin levels. Marijuana is associated with hormonal imbalance in this infertile cohort by lowering estradiol levels and inhibiting aromatase function.
- SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome(2023) SCHNOLL, Caroline; KREPISCHI, Ana Cristina Victorino; RENCK, Alessandra Covallero; AMATO, Lorena Guimaraes Lima; KULIKOWSKI, Leslie Domenici; DANTAS, Naiara Castelo Branco; COSTA, Elaine Maria Frade; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia; JORGE, Alexander Augusto de Lima; SILVEIRA, Leticia Ferreira GontijoIntroduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. More than 40 genes have been associated with the pathogenesis of CHH, but most cases still remain without a molecular diagnosis. Mutations involving the same gene (e.g. FGFR1, PROK2/PROKR2, CHD7) were found to cause normosmic CHH and Kallmann syndrome, with and without associated phenotypes, illustrating the coexistence of CHH with signs of other complex syndromes. The Witteveen-Kolk syndrome (WITKOS), caused by defects of the SIN3A gene, is a heterogeneous disorder characterized by distinctive facial features, microcephaly, short stature, delayed cognitive and motor development. Although micropenis and cryptorchidism have been reported in this syndrome, WITKOS has not been formally associated with CHH so far. Patients and Methods: A man with Kallmann syndrome (KS) associated with mild syndromic features (S1) and a boy with global developmental delay, syndromic short stature, micropenis and cryptorchidism (S2), in whom common genetic defects associated with CHH and short stature had been previously excluded, were studied by either chromosomal microarray analysis (CMA) or whole exome sequencing (WES). Results: Rare SIN3A pathogenic variants were identified in these two unrelated patients with CHH phenotypic features. A 550 kb deletion at 15q24.1, including the whole SIN3A gene, was identified in S1, and a SIN3A nonsense rare variant (p.Arg471*) was detected in S2. Conclusion: These findings lead us to propose a link between SIN3A defects and CHH, especially in syndromic cases, based on these two patients with overlapping phenotypes of WITKOS and CHH.
conferenceObject 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