IMPE Abstracts

Adrenal hypoplasia congenita due to NR0B1 pathogenic variations accounts for more than 50% of children with primary adrenal insufficiency. Although more than 230 different deleterious variations have already been described, no genotype-phenotype correlation had been defined so far. Frequently, clinical manifestations include salt-losing adrenal failure, in association with hypogonadotropic hypogonadism (HH) at puberty and infertility at adulthood. We report a case of an adopte...