TANIA APARECIDA SARTORI SANCHEZ BACHEGA
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
86 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 86
- Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome(2014) MACIEL, Gustavo A.Rosa; MOREIRA, Ricardo P.P.; BUGANO, Diogo D.G.; HAYASHIDA, Sylvia A.Y.; MARCONDES, Jose A.M.; GOMES, Larissa G.; MENDONCA, Berenice B.; BACHEGA, Tania A.S.S.; BARACAT, Edmund C.OBJECTIVES: We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1) polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome. METHOD: Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests. RESULTS: Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects. CONCLUSION: The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.
article Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia(2011) HAYASHI, Giselle; FAURE, Claudia; BRONDI, Maria Fernanda; VALLEJOS, Carla; SOARES, Daiana; OLIVEIRA, Erica; BRITO, Vinicius N.; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.Objective: To evaluate weight-adjusted strategy for levels of neonatal-17OHP in order to improve newborn screening (NBS) efficiency. Subjects and methods: Blood samples collected between 2-7 days of age from 67,640 newborns were evaluated. When N17OHP levels were >= 20 ng/mL, and a second sample was requested. We retrospectively analyzed neonatal-17OHP levels measured by Auto DELFIA-B024-112 assay, grouped according to birth-weight: G1: < 1,500 g, G2: 1,501-2,000 g, G3: 2,000-2,500 g and G4: > 2,500 g. 17OHP cutoff values were determined for each group using the 97.5th, 99th, 99.5th and 99.8th percentiles. Results: 0.5% of newborns presented false-positive results using the cutoff level >= 20 ng/mL for all groups. Neonates of low birthweight made up 69% of this group. Seven full-term newborns presented congenital adrenal hyperplasia (CAH) and, except for one of them, 17OHP levels were > 120 ng/mL. Only the 99.8th percentile presented higher predictive positive value (2%), and lower rate of false-positives in all groups. Conclusions: We suggest the use of 99.8th percentile obtained by weight-adjusted N17OHP values of healthy newborns to reduce the rate of false-positive results in NBS. Arq Bras Endocrinol Metab. 2011;55(8):632-7- Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence(2020) MIRANDA, Mirela Costa de; HADDAD, Luciana Bertocco de Paiva; MADUREIRA, Guiomar; MENDONCA, Berenice Bilharinho de; BACHEGA, Tania A. S. S.Objective: To establish short- and long-term adverse outcome frequencies related to a late diagnosis of congenital adrenal hyperplasia (CAH) in the absence of newborn screening (NBS) and to determine respective treatment costs, which have never been reported. Design: A retrospective analysis of a CAH cohort diagnosed without NBS. Methods: We evaluated medical record data concerning 195 patients (141 females) diagnosed with CAH through clinical suspicion and confirmed using hormonal and CYP21A2 analysis, who were followed from 1980 to 2016 at Sao Paulo University. We measured mortality, dehydration, mental impairment frequencies, and hospitalization length outcomes in the salt-wasting form; the frequency of genetic females raised as males in both forms, frequency of depot GnRh analog (GnRha) and GH therapies in the simple virilizing form, and related outcome costs were calculated. Results: Mortality rates and associated costs, varying from 10% to 26% and from $2,239,744.76 to $10,271,591.25, respectively, were calculated using the Brazilian yearly live-births rate, estimated productive life years, and gross domestic product. In the salt-wasting form, 76% of patients were hospitalized, 8.6% were mentally impaired, and 3% of females were raised as males (total cost, $86,230/salt-wasting patient). GnRha and growth hormone were used for 28% and 14% of simple virilizing patients, respectively, and 18% of females were raised as males (preventable cost, $4232.74/simple virilizing patient). Conclusions: A late CAH diagnosis leads to high mortality and morbidity rates, notably increasing public health costs, and may result in physical and psychological damage that is not easily measurable. (C) Endocrine Society 2019.
conferenceObject Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice(2023) LIM, David B. N.; BRYCE, Jillian; ALI, Salma R.; TSERETOPOULOU, Xanthippi; BIRKEBAEK, Niels H.; HANNEMA, Sabine E.; CAMPOS-MARTORELL, Ariadna; CLEMENTE, Maria; NEUMANN, Uta; FLUCK, Christa E.; METZGER, Sara; KRONE, Ruth E.; GERMAN, Alina; BARONIO, Federico; ATAPATTU, Navoda; SENEVIRATNE, Sumudu N.; COOLS, Martine; MIEKE, Thery; GURAN, Tulay; ABALI, Zehra Yavas; FU, Antony; JANUS, Dominika; WASNIEWSKA, Malgorzata; COCO, Roberto; RUSSO, Gianni; STANCAMPIANO, Marianna Rita; BONFIG, Walter; SALERNO, Mariacarolina; GRINTEN, Hedi L. Claahsen-Van Der; ADRIAANSEN, Bas P. H.; BACHEGA, Tania; COSTA, Fernanda Cavalieri; MARGINEAN, Otilia; SANCTIS, Luisa De; PROBST, Ursina; LENHERR-TAUBE, Nina; KONRAD, Daniel; O'CONNELL, Michele; GAWLIK, Aneta; SANDBERG, David E.; SHNORHAVORIAN, Margarett; KRONE, Nils; AHMED, S. Faisal; DAVIES, Justin H.- Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion(2014) MOYSES-OLIVEIRA, Mariana; MANCINI, Tatiane I.; TAKENO, Sylvia S.; RODRIGUES, Andressa D. S.; BACHEGA, Tania A. S. S.; BERTOLA, Debora; MELARAGNO, Maria IsabelCryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. In this study, we describe a patient with multiple congenital abnormalities, such as late-onset congenital adrenal hyperplasia (CAH), primary ovarian failure and Ehlers-Danlos syndrome (EDS), who carries a de novo t(6;14)(p21;q32) translocation. Genomic array analysis identified a cryptic 1.1-Mb heterozygous deletion, adjacent to the breakpoint on chromosome 6, extending from 6p21.33 to 6p21.32 and affecting 85 genes, including CYP21A2,TNXB and MSH5. Multiplex ligation-dependent probe amplification analysis of the 6p21.3 region was performed in the patient and her family and revealed a 30-kb deletion in the patient's normal chromosome 6, inherited from her mother, resulting in homozygous loss of genes CYP21A1P and C4B. CYP21A2 sequencing showed that its promoter region was not affected by the 30-kb deletion, suggesting that the deletion of other regulatory sequences in the normal chromosome 6 caused a loss of function of the CYP21A2 gene. EDS and primary ovarian failure phenotypes could be explained by the loss of genes TNXB and MSH5, a finding that may contribute to the characterization of disease-causing genes. The detection of this de novo microdeletion drastically reduced the estimated recurrence risk for CAH in the family. (C) 2014 S. Karger AG, Basel
- Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment(2022) V, Maria Candida B. Fragoso; BACHEGA, Tania A. S. S.; DAIN, Liliana
conferenceObject Does Age at Diagnosis Influence Adult Phenotype in a Multicenter Cohort of Females with Nonclassic Congenital Adrenal Hyperplasia?(2021) KIM, Mimi; PARKER, Megan; AZZIZ, Ricardo; BACHEGA, Tania; EUGSTER, Erica; CANESTRINO, Gennaro; EUGSTER, Erica; GEFFNER, Mitchell; GELLER, David; GOMEZ, Larissa; IBANEZ, Lourdes; NEBESIO, Todd; OBERFIELD, Sharon E.; PIGNATELLI, Duarte; SPEISER, Phyllis; WISE-ORINGER, Brittany; WITCHEL, Selma; MERKE, Deborah- Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia(2023) RIGHI, Beatrice; ALI, Salma R.; BRYCE, Jillian; TOMLINSON, Jeremy W.; BONFIG, Walter; BARONIO, Federico; COSTA, Eduardo C.; GUARAGNA-FILHO, Guilherme; T'SJOEN, Guy; COOLS, Martine; MARKOSYAN, Renata; BACHEGA, Tania A. S. S.; MIRANDA, Mirela C.; IOTOVA, Violeta; FALHAMMAR, Henrik; CECCATO, Filippo; STANCAMPIANO, Marianna R.; RUSSO, Gianni; DANIEL, Eleni; AUCHUS, Richard J.; ROSS, Richard J.; AHMED, S. FaisalPurposeTo study the current practice for assessing comorbidity in adults with 21-hydroxylase CAH and to assess the prevalence of comorbidity in these adults.MethodsA structured questionnaire was sent to 46 expert centres managing adults with CAH. Information collected included current therapy and surveillance practice with a particular focus on osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity.ResultsOf the 31 (67%) centres from 15 countries that completed the survey, 30 (97%) screened for hypertension by measuring blood pressure, 30 (97%) screened for obesity, 26 (84%) screened for abnormal glucose homoeostasis mainly by using Hb1Ac (73%), 25 (81%) screened for osteoporosis mainly by DXA (92%), 20 (65%) screened for hyperlipidaemia and 6 (19%) screened for additional CV disease. Of the 31 centres, 13 provided further information on the six co-morbidities in 244 patients with a median age of 33 yrs (range 19, 94). Of these, 126 (52%) were females and 174 (71%) received fludrocortisone in addition to glucocorticoids. Of the 244 adults, 73 (30%) were treated for at least one comorbidity and 15 (21%) for more than 2 co-morbidities. Of 73, the patients who were treated for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity were 43 (59%), 17 (23%), 16 (22%), 10 (14%), 8 (11), 3 (4%) respectively.ConclusionCardiometabolic and bone morbidities are not uncommon in adults with CAH. There is a need to standardise the screening for these morbidities from early adulthood and to explore optimal therapy through routine collection of standardised data.
- International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry(2021) BACILA, Irina; FREEMAN, Nicole; DANIEL, Eleni; SANDRK, Marija; BRYCE, Jillian; ALI, Salma Rashid; ABALI, Zehra Yavas; ATAPATTU, Navoda; BACHEGA, Tania A.; BALSAMO, Antonio; BIRKEBAEK, Niels; BLANKENSTEIN, Oliver; BONFIG, Walter; COOLS, Martine; COSTA, Eduardo Correa; DARENDELILER, Feyza; EINAUDI, Silvia; ELSEDFY, Heba Hassan; FINKEN, Martijn; GEVERS, Evelien; GRINTEN, Hedi L. Claahsen-van der; GURAN, Tulay; GUVEN, Ayla; HANNEMA, Sabine E.; HIGHAM, Claire E.; IOTOVA, Violeta; KAMP, Hetty J. van der; KORBONITS, Marta; KRONE, Ruth E.; LICHIARDOPOL, Corina; LUCZAY, Andrea; MENDONCA, Berenice Bilharinho; MILENKOVIC, Tatjana; MIRANDA, Mirela C.; MOHNIKE, Klaus; NEUMANN, Uta; ORTOLANO, Rita; POYRAZOGLU, Sukran; THANKAMONY, Ajay; TOMLINSON, Jeremy W.; VIEITES, Ana; VRIES, Liat de; AHMED, S. Faisal; ROSS, Richard J.; KRONE, Nils P.Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International CAH Registry. Methods: Data were collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m(2)/day at age 1-8 years and the highest dose of 14.0 (11.6-17.4) mg/m(2)/day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.
conferenceObject Analysis of Predictive Factors for Low Bone Mineral Density in Young Adults with 21-Hydroxylase Deficiency(2014) TAVARES, Maria da Glori; ALVARENGA, Tassiane; MOREIRA, Ricardo Paranhos; CARVALHO, Daniel Fiordelisio de; GOMES, Larissa Garcia; MADUREIRA, Guiomar; MENDONCA, Berenice B.; BACHEGA, Tania A.