Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is often associated with increased cardiovascular risk. However, evidence regarding cardiac function in CAH remains limited, particularly in adult. This study aimed to evaluate cardiac structure and function by echocardiography in well-controlled adults with classical CAH.

Methods: A cross-sectional study including 23 classical adults (mean age 38 ± 11.5 years; 18 females; 12 with salt-wasting form) and 23 healthy volunteers matched for sex, age, and body mass index (BMI). Cardiac structure and function were assessed by echocardiography. Anthropometric data, blood pressure and metabolic parameters were evaluated. Hormonal markers of disease control (17-hydroxyprogesterone and androstenedione) and hydrocortisone-equivalent glucocorticoid dose (mg/m²) were assessed in CAH patients. Twenty patients were well-controlled. Group comparisons were performed using the Mann–Whitney test and correlations using Spearman coefficients.

Results: Most patients (62%) received low doses of dexamethasone (mean hydrocortisone-equivalent dose was 5.8 ± 4.9 mg/m²/day). Twelve patients (52%) received fludrocortisone (mean dose 50 ± 28 mg/day). BMI was similar between patients and controls (27.3 ± 6.3 vs 28.4 ± 8.7 kg/m², P =0.64), as were systolic and diastolic blood pressure. No participants were using antihypertensive medications. Echocardiographic parameters—left atrial size, left atrial volume, left ventricular mass index, and pulmonary systolic pressure—did not differ between groups. There was a trend toward lower left ventricular ejection fraction in CAH patients compared with controls (60.8 ± 10.4% vs 65.4 ± 3.4%, P =0.055), although values remained within the normal range. In CAH patients, systolic blood pressure showed a slightly positive correlation with left atrial volume (r =0.52, P =0.07), with all values within the normal range. No correlations were observed between echocardiographic parameters and hydrocortisone/fludrocortisone doses or hormonal control markers.

Conclusion: Cardiac structure and function appear preserved in well-controlled adults with classical CAH receiving relatively low glucocorticoid doses. Although left ventricular ejection fraction was slightly lower in CAH patients, values remained within the normal range. These findings suggest that long-term treatment with physiological glucocorticoid and mineralocorticoid doses may not be associated with clinically relevant structural cardiac alterations; however, larger studies are needed to confirm these observations. Grants from FAPESP #2019/26780-9 and #2023/11168-1.