NATHALIA LISBOA ROSA ALMEIDA GOMES
Projetos de Pesquisa
Unidades Organizacionais
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
4 resultados
Resultados de Busca
Agora exibindo 1 - 4 de 4
- Disorders of Sex Development-Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation(2020) GOMES, Nathalia Lisboa; CHETTY, Tarini; JORGENSEN, Anne; MITCHELL, Rod T.Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary 'male' pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context.
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, AjayconferenceObject 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- Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum(2019) SILVA, Thatiana Evilen da; GOMES, Nathalia Lisboa; LERARIO, Antonio Marcondes; KEEGAN, Catherine Elizabeth; NISHI, Mirian Yumi; CARVALHO, Filomena Marino; VILAIN, Eric; BARSEGHYAN, Hayk; MARTINEZ-AGUAYO, Alejandro; FORCLAZ, Maria Veronica; PAPAZIAN, Regina; PAULA, Leila Cristina Pedroso de; COSTA, Eduardo Correa; CARVALHO, Luciani Renata; JORGE, Alexander Augusto Lima; ELIAS, Felipe Martins; MITCHELL, Rod; COSTA, Elaine Maria Frade; MENDONCA, Berenice Bilharinho; DOMENICE, SorahiaContext: 46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS). Objective: To report a gene for 46,XY GD etiology, especially for ETRS. Design: Screening of familial cases of 46,XY GD using whole-exome sequencing and sporadic cases by target gene-panel sequencing. Setting: Tertiary Referral Center for differences/disorders of sex development (DSD). Patients and Interventions: We selected 87 patients with 46,XY DSD (17 familial cases from 8 unrelated families and 70 sporadic cases); 55 patients had GD (among them, 10 patients from 5 families and 8 sporadic cases had ETRS), and 32 patients had 46,XY DSD of unknown etiology. Results: We identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene in five families (n = 11 patients) and in six sporadic cases. Two variants were recurrent: p.Arg308Gln (in two families and in three sporadic cases) and p.Arg674Trp (in two families and in two sporadic cases). The variants were specifically associated with ETRS (7/14 index cases; 50%). The frequency of rare, predicted-to-be-deleterious DHX37 variants in this cohort (14%) is significantly higher than that observed in the Genome Aggregation Database (0.4%; P < 0.001). Immunohistochemistry analysis in human testis showed that DHX37 is mainly expressed in germ cells at different stages of testis maturation, in Leydig cells, and rarely in Sertoli cells. Conclusion: This strong genetic evidence identifies DHX37 as a player in the complex cascade of male gonadal differentiation and maintenance.