Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutations

Abstract

In X-linked AHC caused by different molecular defects in NR0B1 gene, the clinical spectrum of the disease is quite variable and precocious sexual development is a prominent feature. Genetic testing is indicated in boys presenting with salt-wasting with or without cortisol deficiency if congenital adrenal hyperplasia has been ruled out.