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

• Grant number: 11/23460-1
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: May 01, 2012
• End date: April 30, 2015
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Gil Guerra Júnior
• Grantee: Ezequiel Moreira Gonçalves
• Host 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

(12)

(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)

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. 266-272, 2014-09-00. (11/23460-1)

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; et al. 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. (12/16778-8, 06/01978-0, 11/23460-1)

BORGES, JULIANO HENRIQUE; DE OLIVEIRA, DANIEL MINUTTI; DE LEMOS-MARINI, SOFIA HELENA VALENTE; GELONEZE, BRUNO; GUERRA-JUNIOR, GIL; GONCALVES, EZEQUIEL MOREIRA. ormal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therap. OSTEOPOROSIS INTERNATIONAL, v. 33, n. 1, AUG 2021. (12/16778-8, 11/23460-1)

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. (12/16778-8, 11/23460-1)

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. (11/23460-1)

JULIANO HENRIQUE BORGES; DANIELA ALBIERO CAMARGO; LETICIA ESPOSITO SEWAYBRICKER; RENATA ISA SANTORO; DANIEL MINUTTI DE OLIVEIRA; SOFIA HELENA VALENTE DE LEMOS-MARINI; BRUNO GELONEZE; GIL GUERRA-JÚNIOR; EZEQUIEL MOREIRA GONÇALVES. Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. ARCHIVES OF ENDOCRINOLOGY METABOLISM, 2022-08-12. (12/16778-8, 14/20186-4, 11/23460-1, 17/00657-0)

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. (11/23460-1, 12/16778-8)

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. (12/16778-8, 11/23460-1)

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. (11/23460-1)

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. (12/16778-8, 11/23460-1)

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. (11/23460-1, 12/16778-8)

BORGES, JULIANO HENRIQUE; CAMARGO, DANIELA ALBIERO; SEWAYBRICKER, LETICIA ESPOSITO; SANTORO, RENATA ISA; DE OLIVEIRA, DANIEL MINUTTI; DE LEMOS-MARINI, SOFIA HELENA VALENTE; GELONEZE, BRUNO; GUERRA-JUNIOR, GIL; GONCALVES, EZEQUIEL MOREIRA. Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 67, n. 1, p. 9-pg., 2023-01-01. (11/23460-1, 17/00657-0, 12/16778-8, 14/20186-4)