Endocrine Abstracts

JOINT2399

Background: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is an autosomal recessive condition with a prevalence of approximately 1 in 15 000. Children with classic form of CAH (CCAH) experience an increased cardiometabolic risk compared to general population. We conducted a systematic review of published studies regarding the cardiometabolic phenotype in children with CCAH, identifying 25 studies on the subject. Qualitative analysis showed that children with CCAH have elevated multiple cardiometabolic risk factors. Findings concerning lipid metabolism are variable and limited in children with CCAH as well as in adults and there are no data regarding lipoprotein subclasses. Small, dense low-density lipoprotein (LDL) particles are highly susceptible to oxidation, while high-density lipoproteins (HDL) exhibit potent antioxidant properties. This research method was designed to explore the metabolic phenotype regarding alterations in lipoprotein size and subclasses distribution and redox status markers in children with CCAH.

Methods: after obtaining the consent of parents/guardians and children, 20 children with CCAH of both genders were included, with a control group consisting of 20 children without CAH who were assessed due to signs of premature puberty. Basic demographic data were collected on all subjects, as well as other anamnestic and clinical data of importance in the evaluation of CCAH (independent variables: age, gender, anthropometric features, CCAH type (SW or SV), serum androgen levels, total daily dose of hydrocortisone and the outcomes of interest: body mass index, waist and hip circumference, body composition, fasting glycaemia, HOMA IR, heart rate, blood pressure, lipoprotein subclasses and particles, inflammatory status). The size and subclass distribution of lipoprotein particles will be determined by gradient gel electrophoresis. Paraoxonase-1 (PON1) activity will be assessed as a biomarker of HDL’s antioxidant properties. The redox status of study participants, including prooxidative markers (TOS, PAB), oxidative damage indicators (AOPP), and antioxidative defense biomarkers (SH-groups, SOD), will be evaluated using spectrophotometric methods.

Results: Comparisons between groups will be conducted using t-tests or Mann-Whitney U tests for continuous variables and Chi-square tests for categorical variables. Spearman correlation coefficients will assess associations between variables, followed by multiple linear regression to identify independent predictors. Binary logistic regression will evaluate associations between independent variables and metabolic outcomes, while ROC (Receiver Operating Characteristic) analysis will assess the diagnostic accuracy of selected biomarkers. Statistical analysis will be performed by SPSS v.18 (Chicago, IL, USA).

Conclusion: Further studies of cardiometabolic phenotype in CCAH are needed especially in children, where present data are scarce.