Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Abstract

Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.

Keywords

• adrenal insufficiency
• congenital adrenal hypoplasia
• nr0b1