TANIA APARECIDA SARTORI SANCHEZ BACHEGA

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Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder

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  • 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
  • article 9 Citação(ões) na Scopus
    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.
  • article 0 Citação(ões) na Scopus
    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
  • article 3 Citação(ões) na Scopus
    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. Faisal
    PurposeTo 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.
  • conferenceObject
    A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency
    (2023) TSERETOPOULOU, Xanthippi; LUCAS-HERALD, Angela; CHEN, Jiajia; BACHEGA, Tania; CHARMANDARI, Evangelia; CHOI, Jin-Ho; DOU, Xinyu; GONG, Chunxiu; HAMZA, Rasha; HARVEY, Jamie; HOFFMAN, Andrew R.; HORIKAWA, Reiko; JOHANNSSON, Gudmundur; JORGE, Alexander; MILLER, Bradley S.; ROEHRICH, Sebastian; SAVENDAHL, Lars; VITALI, Diana; WAJNRAJCH, Michael; CHEN, Suet Ching; AHMED, Syed Faisal
  • article 2 Citação(ões) na Scopus
    Os interferentes endócrinos ambientais precisam receber a atenção dos endocrinologistas brasileiros
    (2011) BACHEGA, Tania A. S. Sanchez; VERRESCHI, Ieda T.; FRADE, Elaine M. Costa; D'ABRONZO, Francisco Homero; LAZARETTI-CASTRO, Marise
  • conferenceObject
    Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH
    (2023) TSERETOPOULOU, Xanthippi; ALI, Salma R.; BRYCE, Jillian; AMIN, Nadia; ATAPATTU, Navoda; BACHEGA, Tania; BARONIO, Federico; BIRKEBAEK, Niels H.; BONFIG, Walter; DAVIES, Justin H.; THOMAS, Tessy; VRIES, Liat de; ELSEDFY, Heba; AMR, Nermine Hussein; FLUECK, Christa E.; GLOBA, Evgenia; ZELINSKA, Natalia; GURAN, Tulay; ABALI, Zehra Yavas; GUVEN, Ayla; HANNEMA, Sabine E.; IOTOVA, Violeta; KONRAD, Daniel; KRONE, Nils P.; LENHERR-TAUBE, Nina; LEKA-EMIRIS, Sofia; VLACHOPAPADOPOULOU, Elpis; LICHIARDOPOL, Corina R.; MARGINEAN, Otilia; MARKOSYAN, Renata L.; NIEDZIELA, Marek; BANASZAK-ZIEMSKA, Magdalena; NEUMANN, Uta; PHAN-HUG, Franziska; POLYRAZOGLU, Sukran; PROBST, Ursina; RANDELL, Tabitha; RUSSO, Gianni; SALERNO, Mariacarolina; SHNORHAVORIAN, Margarett; ECK, Judith van; VIEITES, Ana; WASNIEWSKA, Malgorzata; AHMED, Syed F.
  • 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
  • conferenceObject
    Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) - longitudinal analysis of real world data from the I-CAH registry
    (2022) LAWRENCE, Neil R.; BACILA, Irina; DAWSON, Jeremy; ALI, Salma R.; AKKER, Erica L. T. van den; BACHEGA, Tania Aparecida Sartori Sanchez; BARONIO, Federico; BIRKEBAEK, Niels Holtum; BONFIG, Walter; GRINTEN, Claahsen van der; COOLS, Martine; COSTA, Eduardo Correa; VRIES, Liat de; FLUCK, Christa; GAZDAGH, Gabriella; GUVEN, Ayla; HANNEMA, Sabine; IOTOVA, Violeta; KAMP, Hetty J. van der; KRONE, Ruth; LEKA-EMIRI, Sofia; LEON, Maria Clemente; LICHIARDOPOL, Corina Raducanu; MARKOSYAN, Renata L.; MILENKOVIC, Tatjana; MIRANDA, Mirela Costa de; NEUMANN, Uta; NEWELL-PRICE, John; POYRAZOGLU, Sukran; PROBST-SCHEIDEGGER, Ursina; RUSSO, Gianni; SANCTIS, Luisa De; SAFWAAN, Adam; SENEVIRATNE, Sumudu; STANCAMPIANO, Marianna Rita; TADOKORO-CUCCARO, Rieko; THANKAMONY, Ajay; VIEITES, Ana; WASNIEWSKA, Malgorzata; YESTE, Diego; DANIEL, Eleni; TOMLINSON, Jeremy; AHMED, S. Faisal; KRONE, Nils