Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported both in disease, such as Cushings syndrome characterized by prolonged exposure to elevated GCs, as well as in healthy people using synthetic GC in an experimental design. Therefore, it is possible that long-term glucocorticoid replacement therapy might affect cognitive and affective functions in patients with CAH as well. In addition, neonatal salt-losing crisis may have an additive negative effect on cognitive performance.
Objective: To investigate cognition in children with congenital adrenal hyperplasia (CAH) and the impact of prenatal DEX treatment.
Design, patients and setting: An observational study comparing children with CAH, (n=45, mean age, 11.8 yr; range 717 yr) with population controls (n=66, mean age 10.7; range 717 yr). All CAH children were identified through the national neonatal screening program. Eleven of 45 children with CAH (f=6, m=5) were treated prenatally with dexamethasone (DEX).
Measurements: Standardized neuropsychological tests (Wechsler scales and the Stroop interference test) were used to assess cognition.
Results: Children with CAH performed equally well on tests assessing general intellectual ability and executive functions compared to populations controls and better on tests assessing learning and memory (P=0.046). We could not find differences in cognitive perfomance between children with salt-wasting versus simple-virilising CAH. Prenatally DEX-treated girls with CAH performed significantly poorer on tests assessing verbal intelligence compared to girls with CAH that had not receive prenatal treatment (P=0.018).
Conclusion: Children with CAH identified through the national neonatal screening program in Sweden for CAH have normal cognitive functions. These findings are in contradiction with a previous report from UK where children with CAH who were not subjected to neonatal screening had impaired executive functions already at an early age. Our results indicate that prenatal DEX therapy may affect verbal intelligence in girls with CAH.
Keywords: cognition; congenital adrenal hyperplasia; glucocorticoids; dexamethasone; prenatal treatment.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology