Novel Therapies for Treating Short Stature with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which various errors in adrenal biosynthesis pathways lead to impaired cortisol secretion, possible impairment of mineralocorticoid production and androgen excess. Glucocorticoid replacement therapy is the primary treatment for CAH; however, the combination of androgen excess and high doses of glucocorticoids contributes to shortened adult height. Novel approaches to address this problem are being developed, particularly the use of growth hormone (GH) and gonadotropin releasing hormone analogs (GnRHa). In this review, we document and compare the effectiveness of these novel therapies in ameliorating the decreased adult height observed in patients with CAH. Available data indicate effectiveness of these novel treatment strategies, suggesting widespread implementation of these treatment strategies should be tested with the expectation of being recommended as the standard of care. Abbreviations: Congenital adrenal hyperplasia (CAH); Salt wasting (SW-CAH); Non-salt wasting (NSW-CAH); Growth hormone (GH); Gonadotropin releasing hormone analogs (GnRHa); Luteinizing hormone releasing hormone analog (LHRHa); 21-hydroxylase gene (CYP21); 21-hydroxylase pseudogene (CYP21p); Hypothalamic-pituitary-adrenal (HPA); Corticotropin-releasing hormone (CRH); Adrenocorticotropic hormone (ACTH); Bone mineral density (BMD); Standard score (SDS).