ea0051p010 | Adrenal | BSPED2017
Andrews Edward
, Taylor Carl
, Metherell Lou
, Buonocore Frederica
, Achermann John
, Maharaj Avinaash
, Davies Justin H
Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...