ESPE Abstracts

Background: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by defect in adrenal and gonadal steroidogenesis and lipid droplet accumulation in steroidogenic cells. 46,XY patients with classic LCAH typically present with female-type external genitalia, while those with nonclassic LCAH have masculinized external genitalia. The rarity of the nonclassic form precludes the clarification of pubertal and reproduc...

Background: While hemizygous NR0B1 (DAX1) mutations usually lead to adrenal crisis during infancy or early childhood, p.Gln37*, p.Trp39*, and some other mutations result in late-onset or latent adrenal insufficiency. A small percentage of boys with NR0B1 mutations develops precocious puberty in addition to adrenal insufficiency.Objective and hypotheses: To report a boy with an NR0B1 mutation who exhibited central precocious puberty without adren...