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

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.