RENATA DA CUNHA SCALCO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject Final Adult Height of Patients with Disorders of Sex Development (DSD) Associated with Sex Chromosome Abnormalities 45,X/46,XY or 45,X/46,X,+Y Variants(2016) FARIA JUNIOR, J. A. D.; GOMES, N. L.; BATISTA, R. L.; MORAES, D. R.; SCALCO, R.; NISHI, M. Y.; JORGE, A. A. L.; ULTRA, M. A. M. S.; COSTA, E. M. F.; MENDONCA, B. B.; DOMENICE, S.- The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis(2013) MALAQUIAS, Alexsandra C.; SCALCO, Renata C.; FONTENELE, Eveline G. P.; COSTALONGA, Everlayny F.; BALDIN, Alexandre D.; BRAZ, Adriana F.; FUNARI, Mariana F. A.; NISHI, Mirian Y.; GUERRA-JUNIOR, Gil; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.Aims: To determine the presence of abnormal body proportion, assessed by sitting height/height ratio for age and sex (SH/H SDS) in healthy and short individuals, and to estimate its role in selecting short children for SHOX analysis. Methods: Height, sitting height and weight were evaluated in 1,771 healthy children, 128 children with idiopathic short stature (ISS), 58 individuals with SHOX defects (SHOX-D) and 193 females with Turner syndrome (TS). Results: The frequency of abnormal body proportion, defined as SH/H SDS > 2, in ISS children was 16.4% (95% CI 10-22%), which was higher than in controls (1.4%, 95% CI 0.8-1.9%, p < 0.001). The SHOX gene was evaluated in all disproportionate ISS children and defects in this gene were observed in 19%. Among patients with SHOX-D, 88% of children (95% CI 75-100%) and 96% of adults had body disproportion. In contrast, SH/H SDS > 2 were less common in children (48%, 95% CI 37-59%) and in adults (28%, 95% CI 20-36%) with TS. Conclusion: Abnormal body proportions were observed in almost all individuals with SHOX-D, 50% of females with TS and 16% of children considered ISS. Defects in SHOX gene were identified in 19% of ISS children with SH/H SDS > 2, suggesting that SH/H SDS is a useful tool to select children for undergoing SHOX molecular studies. (C) 2013 S. Karger AG, Basel
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- ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome(2019) SCALCO, Renata C.; TRARBACH, Ericka B.; ALBUQUERQUE, Edoarda V. A.; HOMMA, Thais K.; INOUE-LIMA, Thais H.; NISHI, Mirian Y.; MENDONCA, Berenice B.; JORGE, Alexander A. L.Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen receptor 1 gene (ESR1) polymorphisms (rs543650, rs1038304, rs2046210, rs2234693 and rs9340799) on adult height, breast development, uterine volume and bone mineral density (BMD). We studied 91 TS patients from a tertiary hospital using adult estrogen dose. In our group, ESR1 rs2234693 was associated with femoral neck and total hip BMD, and it accounted for around 10% of BMD variability in both sites (P < 0.01). Patients homozygous for C allele in this polymorphism had significantly lower femoral neck BMD (0.699 t 0.065 g/cm(2)vs 0.822 +/- 0.113 g/cm(2), P = 0.008) and total hip BMD (0.777 +/- 0.118 g/cm(2)vs 0.903 +/- 0.098 g/cm(2), P = 0.009) than patients homozygous for T allele. The other four ESR1 polymorphisms were not able to predict any of the above estrogen therapy outcomes in an isolated manner. Patients homozygous for the haplotype GCG formed by polymorphisms rs543650, rs2234693 and rs9340799 had an even more significantly lower femoral neck BMD (0.666 +/- 0.049 vs 0.820 +/- 0.105 g/cm(2), P = 0.0047) and total hip BMD (0.752 +/- 0.093 vs 0.908 +/- 0.097 g/cm(2), P = 0.0029) than patients homozygous for haplotypes with a T allele in rs2234693. In conclusion, homozygosity for C allele in ESR1 rs2234693 and/or for GCG haplotype appears to be associated with lower femoral neck and total hip BMD. We believe that the identification of polymorphisms related to estrogen outcomes may contribute to individualization of treatment in TS.