Hence, a multigene next-generation sequencing (NGS) panel for genes associated with congenital adrenal hypoplasia (CDKN1C, NNT, NR0B1, POLE, POMC, POR, SAMD9 e TBX19) was conducted and the pathogenic variant in the NR0B1 gene c.1273A>G p.(Arg425Gly) was found. Here, NR0B1 is linked to chronic primary adrenal insufficiency.