Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia

• Published in: Hormone research in paediatrics Vol. 96; no. 6; pp. 560 - 572
• Main Authors: Nordenström, Anna, Falhammar, Henrik, Lajic, Svetlana
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 2023
• Subjects: Adolescent; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - drug therapy; Androgens; Child; Glucocorticoids - therapeutic use; Humans; Hydrocortisone - therapeutic use; Infant, Newborn; Mineralocorticoids; Review Article; Puberty; Growth; Stress dosing; Fludrocortisone; Nevanimibe; Hypoglycemia; Modified release hydrocortisone; Hydrocortisone replacement; Corticotropin-releasing hormone-receptor antagonist; 21-Hydroxylase deficiency; Cytochrome P450 family 21 subfamily A member 2; Neonatal screening; 17-Hydroxyprogesterone; Adrenal crisis
• ISSN: 1663-2818; 1663-2826
• DOI: 10.1159/000522260

Abstract Background: The standard treatment for congenital adrenal hyperplasia (CAH) in children is still hydrocortisone. Improved strategies for timing of the dose during the day and the dose per square meter body surface area used in children of different ages and developmental phases have improved the situation and outcome for the patients. Neonatal screening enables an earlier diagnosis and initiation of treatment, prevents from adrenal crisis, and improves growth and development also for children with the less severe forms of CAH. Summary: This review describes the current treatment strategies for children with CAH and discusses some potential treatment options that have been developed with the primary aim to decrease the adrenal androgen production. Novel modified release glucocorticoid therapies are also discussed. Key Messages: The long-term effects of the new adjunct therapies are unknown, and some are not suitable for use in children and adolescents. The effects of the new therapies on bone mineral density, gonadal functions, and long-term cognitive development are yet to be assessed. It is not known what levels of adrenal androgens are optimal for normal growth, puberty, and bone health. The basis of using glucocorticoids and mineralocorticoids in the treatment of CAH remains, and in some individuals, it may be beneficial to add therapies to reduce the androgen load during certain life stages.