A Comparison of Exercise Capacity, Muscle Functions, Physical Fitness, and Physical Activity Levels in Children With Congenital Adrenal Hyperplasia and Healthy Controls

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by the deficiency of one of the five enzymes necessary for cortisol synthesis in the adrenal cortex. Dysfunction in cortisol synthesis, as seen in other enzyme deficiencies, leads to an increase in adrenocorticotropic hormone (ACTH) secretion, resulting in hypertension and hypokalemia. Additionally, patients with CAH exhibit excess androgens alongside cortisol deficiency. İn CAH treatment, glucocorticoids are used to suppress androgen production in the adrenal cortex. Deficiency in glucocorticoids and mineralocorticoids, as well as excess androgens, can contribute to the development of adverse metabolic and cardiovascular anomalies.

Ongoing research has revealed a predisposition for adverse metabolic changes in children and adolescents with CAH, including obesity, hypertension, insulin resistance, and increased intima-media thickness, which can increase the risk of developing cardiovascular disease in adulthood. Furthermore, subclinical left ventricular diastolic dysfunction has been observed in adolescents with CAH. İn these patients, due to the deficiency of epinephrine there is an increased tendency for hypoglycemia under stress conditions.

These metabolic changes can lead to impaired exercise performance in patients with CAH, consequently affecting their quality of life.

A study involving twenty classic CAH adolescents and twenty healthy counterparts demonstrated that classic CAH patients exhibited reduced exercise capacity with lower peak workload and higher peak systolic blood pressure during exercise. However, there is a lack of research in the literature comparing respiratory and peripheral muscle strength, daily life activities, physical fitness, and levels of physical activity in children and adolescents with CAH to their healthy peers.