Endocrine Abstracts

JOINT245524

Introduction: Congenital adrenal hyperplasia (CAH) is caused by enzymatic deficiencies in corticosteroid synthesis, with 21-hydroxylase deficiency being the most common. Proper management is essential to optimize patients’ development and quality of life. Conducting 24-h hormonal profiles to optimize treatment is complex, and its usefulness remains controversial.

Objective: To assess the utility of the 24-h hormonal profile in patients with CAH who present difficulties in disease control.

Material and Methods: A protocol was designed to perform a 24-h hormonal profile in patients with CAH. Study participants attended a consultation for an initial assessment before hospital admission. A peripherally inserted central catheter was placed, and blood samples were collected using VAMP system, while patients continued their usual treatment. Blood samples were taken every h for 24 hs, including additional samples 30 minutes after hydrocortisone administration. Hormonal measurements included cortisol, ACTH, 17-OH-progesterone, and androstenedione. Health-related quality of life was assessed using the Child Health and Illness Profile questionnaire. Based on the results, as well as clinical symptoms, daily activities, physical examination, and quality of life, hydrocortisone regimens were adjusted.

Results: Six patients (three females/three males) aged 5 to 16 years were included. The main symptoms reported in consultation were headaches, fatigue, decreased attention in school activities, menstrual cycle disorders, and weight gain. The procedures were well tolerated. Variability in hydrocortisone absorption was observed at equal doses depending on the time of day in the same patient. Several factors that may interfere with hydrocortisone absorption and hormonal variability were identified, including food intake, intestinal absorption variations, and the specific hydrocortisone formulation used. Adjustments in hydrocortisone dosing were associated with the resolution or improvement of symptoms and signs and as well as enhanced quality of life. The advantages and disadvantages of performing the hormonal profile, as well as the challenges in interpreting the results, are discussed.

Conclusions: Performing 24-h hormonal profiles may help personalize treatment regimens according to each patient’s daily activities, aiming to improve growth, pubertal development, and quality of life in CAH patients. The variability in hydrocortisone absorption at the same dose depending on the time of day should be considered when interpreting hormonal results and adjusting treatment. This procedure is time-consuming, costly, and psychologically demanding for both patients and parents, making careful patient selection essential. Additionally, it requires a multidisciplinary team that dedicates significant time to organizing, conducting, interpreting the profile, and making dose adjustments.