ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol (Oxf). 2017; 87(6): 651-659

Patients with CAH are treated with lifelong glucocorticoid (GC) replacement therapy and, for the classic form of the disease, treatment with fludrocortisone is also necessary. During different periods throughout life, it may be difficult to achieve optimal dosing of GC replacement therapy, leading to over- or under-treatment and, therefore, a plausible negative effect on cognition overtime. The additive negative effect of salt-wasting crises and hypoglycaemia may also contribute to the cognitive outcome seen among patients with CAH. In the present study, the authors investigated the cognitive function in adolescents and adults with CAH by comparing intellectual ability and executive functions, as well as learning and memory between patients and general population controls. Individuals with CAH had normal general intelligence, learning and memory, but performed poorer than controls on tests assessing verbal and visuospatial working memory and inhibition. Prenatal dexamethasone treatment may have a more pronounced negative effect in female patients. There were no significant differences between phenotypes, and the glucocorticoid dose at the time of neurocognitive testing did not correlate with the cognitive outcome in patients with CAH. However, patients with a null genotype performed worse than patients with a non-null genotype in measures of general cognitive ability (estimates of IQ). These findings highlight the importance of optimal therapy in patients with CAH, with glucocorticoid formulations that would mimic more closely physiologic cortisol secretion.