NATHALIA LISBOA ROSA ALMEIDA GOMES
Projetos de Pesquisa
Unidades Organizacionais
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
8 resultados
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- 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency(2017) MENDONCA, Berenice B.; GOMES, Nathalia Lisboa; COSTA, Elaine M. F.; INACIO, Marlene; MARTIN, Regina M.; NISHI, Mirian Y.; CARVALHO, Filomena Marino; TIBOR, Francisco Denes; DOMENICE, Sorahia17 beta-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17 beta-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17 beta-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5 alpha-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17 beta-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review-the previously reported cases of 17 beta-HSD3 deficiency adding our own cases. (C) 2016 Published by Elsevier Ltd.
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, Berenice- 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.
- Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development(2019) BATISTA, Rafael Loch; INACIO, Marlene; ARNHOLD, Ivo Jorge Prado; GOMES, Nathalia Lisboa; FARIA JR., Jose Antonio Diniz; MORAES, Daniela Rodrigues de; COSTA, Elaine Maria Frade; DOMENICE, Sorahia; MENDONCA, Berenice BilharinhoContext: In 46,XY disorders of sexual development (DSD) patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure and external genital virilization are considered to influence human psychosexual development, but their roles not completely understood yet. Design: A total of 144 individuals (18 to 60 years of age) with a clinical/molecular diagnosis of 46,XY DSD from a single tertiary center were enrolled. Psychosexual outcomes (gender role, gender identity, and sexual orientation) were assessed using questionnaires and psychological test. The Sinnecker score was used for genital virilization measurement. Prenatal androgen exposure was estimated according to 46,XY DSD etiology. Results: We found a positive association between prenatal androgen exposure and male psychosexual outcomes. Alternatively, prenatal estrogen exposure, age of gonadectomy, and the degree of external genital virilization did not influence any psychosexual outcome. There were 19% (n = 27) with gender change, which was associated with prenatal androgen exposure (P < 0.001) but not with the external genital virilization. The median age of gender change was 15 years, but most of the patients reported the desire for gender change earlier. Conclusions: Prenatal androgen exposure influenced psychosexual development in 46,XY DSD favoring male psychosexuality in all psychosexual outcomes, whereas the degree of external genital virilization did not influence these outcomes. The organizational effect of sexual steroids on psychosexuality at puberty appears to be weak in comparison with the prenatal effects. Prenatal androgen exposure also influenced female-to-male gender change frequency. All 46,XY DSD conditions with prenatal androgen exposure must be followed for gender issues in their management.
- 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency(2023) GOMES, N. L.; COSTA, E. M. F.; INACIO, M.; MARTIN, R. M.; NISHI, M. Y.; CARVALHO, F. M.; SIRCILLI, M. H. P.; TIBOR, F. D.; DOMENICE, S.; MENDONCA, B. B.In this chapter, we revise the epidemiological, clinical, hormonal, genetical findings and also the long-term outcomes of 46,XY individuals with 17β-HSD3 deficiency based on the review of previously reported cases and also our own cases. © 2023 Elsevier Inc. All rights reserved.
- 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.
- 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.