Cardiometabolic risk in patients with classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency.

• Grant number: 11/23460-1
• Support type: Scholarships in Brazil - Post-Doctorate
• Effective date (Start): May 01, 2012
• Effective date (End): April 30, 2015
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal researcher: Gil Guerra Júnior
• Grantee: Ezequiel Moreira Gonçalves
• Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The deficiency of 21-hydroxylase (D21OH) is the most common form of congenital adrenalhyperplasia (CAH), responsible for more than 90% of cases with the classical form of thedisease. With the improvement of diagnosis and the introduction of replacement therapy withcorticosteroids, there was significant improvement in patient survival. However, studies onthe long-term effects of this treatment, mainly about cardiometabolic risk, are still rare andpartly controversial. Therefore, the aim of this study will be evaluate the cardiometabolic riskin patients with the classical form of CAH-D21OH compared to a control group matched forage, sex and BMI. Also we will analyze the association of risk factors present in metabolicsyndrome in patients with CAH-21OHD with age, sex, genotype, disease control, bodycomposition, physical activity, serum laboratory parameters (leptin, adiponectin, C-reactiveprotein and free metanephrine), insulin resistance, and thickness of carotid intima-media(TCIM). Patients aged over six years, of both sexes, with a diagnosis of HAC-D21H andmonitored routinely for at least two years in our clinic, will be evaluated. For thedetermination of cardiometabolic risk evaluations about body composition (BMI, DXA,skinfold thickness, bioelectrical impedance analysis), blood pressure monitoring for 24hours, blood parameters (lipid profile, blood glucose, insulin, leptin, adiponectin, C-reactiveprotein and free metanephrine), physical activity by questionnaire, and TCIM byultrasonography will take place. In the analysis of results, statistical tests (chi-square,Student's t and Mann-Whitney test, and multiple linear regression) with p less than 0.05 willbe used.

Scientific publications

(10)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

BORGES, JULIANO HENRIQUE; DE OLIVEIRA, DANIEL MINUTTI; DE LEMOS-MARINI, SOFIA HELENA VALENTE; GELONEZE, BRUNO; GUERRA-JUNIOR, GIL; GONCALVES, EZEQUIEL MOREIRA. Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. OSTEOPOROSIS INTERNATIONAL, AUG 2021. Web of Science Citations: 0.

BORGES, JULIANO HENRIQUE; SANTORO, RENATA ISA; DE OLIVEIRA, DANIEL MINUTTI; DE LEMOS-MARINI, SOFIA HELENA VALENTE; GELONEZE, BRUNO; GUERRA-JUNIOR, GIL; GONCALVES, EZEQUIEL MOREIRA. Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme deficiency. INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, v. 75, n. 7 MAY 2021. Web of Science Citations: 0.

DE OLIVEIRA, DANIEL MINUTTI; TURA, ANDREA; JUNQUEIRA VASQUES, ANA CAROLINA; CAMILO, DANIELLA FERNANDES; LIMA, MARCELO MIRANDA; VALENTE DE LEMOS-MARINI, SOFIA HELENA; GONCALVES, EZEQUIEL MOREIRA; GUERRA-JUNIOR, GIL; GELONEZE, BRUNO. Insulin Resistance in Congenital Adrenal Hyperplasia is Compensated for by Reduced Insulin Clearance. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 106, n. 4, p. E1574-E1585, APR 2021. Web of Science Citations: 0.

BORGES, JULIANO HENRIQUE; DE OLIVEIRA, DANIEL MINUTTI; DE LEMOS-MARINI, SOFIA HELENA VALENTE; GELONEZE, BRUNO; GONCALVES, EZEQUIEL MOREIRA; GUERRA-JUNIOR, GIL. Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to21-HydroxylaseEnzyme Deficiency. LIPIDS, v. 56, n. 1 SEP 2020. Web of Science Citations: 0.

DE OLIVEIRA, DANIEL MINUTTI; JUNQUEIRA VASQUES, ANA CAROLINA; GONCALVES, EZEQUIEL MOREIRA; VALENTE DE LEMOS-MARINI, SOFIA HELENA; GUERRA-JUNIOR, GIL; GELONEZE, BRUNO. ENERGY EXPENDITURE IN 21-HYDROXYLASE CONGENITAL ADRENAL HYPERPLASIA PATIENTS AND COMPARISON WITH PREDICTIVE EQUATIONS. ENDOCRINE PRACTICE, v. 26, n. 4, p. 388-398, APR 2019. Web of Science Citations: 0.

KRAHENBUHL, TATHYANE; GONCALVES, EZEQUIEL MOREIRA; GUIMARAES, ROSEANE DE FATIMA; GUERRA-JUNIOR, GIL; BARROS-FILHO, ANTONIO DE AZEVEDO. Competitive Swimming and Handball Participation Have a Positive Influence on Bone Parameters as Assessed by Phalangeal Quantitative Ultrasound in Female Adolescents. PEDIATRIC EXERCISE SCIENCE, v. 28, n. 3, p. 423-430, AUG 2016. Web of Science Citations: 1.

LANGER, RAQUEL D.; BORGES, JULIANO H.; PASCOA, MAURO A.; CIROLINI, VAGNER X.; GUERRA-JUNIOR, GIL; GONCALVES, EZEQUIEL M. Validity of Bioelectrical Impedance Analysis to Estimation Fat-Free Mass in the Army Cadets. NUTRIENTS, v. 8, n. 3 MAR 2016. Web of Science Citations: 10.

GONCALVES, EZEQUIEL MOREIRA; RIBEIRO, ROBERTO REGIS; GOMES DE CARVALHO, WELLINGTON ROBERTO; DE MORAES, ANDERSON MARQUES; ROMAN, EVERTON PAULO; SANTOS, KEILA DONASSOLO; RODRIGUES MEDAETS, PEDRO AUGUSTO; VEIGA-JUNIOR, NELIO NEVES; LACE DE MORAES COELHO, ADRIELLE CAROLINE; KRAHENBUEHL, TATHYANE; SEWAYBRICKER, LETICIA ESPOSITO; BARROS-FILHO, ANTONIO DE AZEVEDO; MORCILLO, ANDRE MORENO; GUERRA-JUNIOR, GIL. Brazilian Pediatric Reference Data for Quantitative Ultrasound of Phalanges According to Gender, Age, Height and Weight. PLoS One, v. 10, n. 6 JUN 4 2015. Web of Science Citations: 5.

GONCALVES, EZEQUIEL M.; SEWAYBRICKER, LETICIA E.; BAPTISTA, FATIMA; SILVA, ANALIZA M.; CARVALHO, WELLINGTON R. G.; SANTOS, ALLAN O.; DE MELLO, MARICILDA P.; LEMOS-MARINI, SOFIA H. V.; GUERRA-JUNIOR, GIL. PERFORMANCE OF PHALANGEAL QUANTITATIVE ULTRASOUND PARAMETERS IN THE EVALUATION OF REDUCED BONE MINERAL DENSITY ASSESSED BY DX IN PATIENTS WITH 21 HYDROXYLASE DEFICIENCY. ULTRASOUND IN MEDICINE AND BIOLOGY, v. 40, n. 7, p. 1414-1419, JUL 2014. Web of Science Citations: 1.

TATHYANE KRAHENBÜHL; EZEQUIEL MOREIRA GONÇALVES; EDUARDO TAVARES COSTA; ANTONIO DE AZEVEDO BARROS FILHO. Fatores que influenciam a massa óssea de crianças e adolescentes saudáveis mensurada pelo ultrassom quantitativo de falanges: revisão sistemática. Revista Paulista de Pediatria, v. 32, n. 3, p. -, Set. 2014.

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

GONÇALVES, Ezequiel Moreira. Energy expenditure in 21-hydroxylase congenital adrenal hyperplasia patients and comparison with predictive equations. 2020. Master's Dissertation - Universidade Estadual de Campinas, Faculdade de Ciências Médicas.