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...

Nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of the nuclear receptor family. It plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, gonadal development and reproduction. NR5A1 mutations represent one of the most frequent defects associated with 46,XY gonadal dysgenesis, associated with a wide phenotypic spectrum of DSD. Some patients with mutations in the NR5A1 may have normal testosterone le...