Atypical presentation and novel StAR protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia

Congenital lipoid adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis and is the most severe form of congenital adrenal hyperplasia. It is an autosomal recessive disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The StAR protein facilitates the entry of cholesterol into the mitochondria. When this protein is defective, cholesterol cannot be converted to pregnenolone, and hence steroidogenesis cannot be initiated. Eventually all adrenal and gonadal steroidogenesis is destroyed. Patients usually present with adrenal salt-wasting crisis in the first 2 months of life. Those with a 46,XY karyotype have complete sex reversal; however, the phenotype can be variable. Adrenal insufficiency has been reported to occur later in life and patients can have partially virilized or even normal male genitalia. We report an atypical female patient with a 46,XY karyotype, who had mild genital virilization and presented with adrenal crisis at 6 months of age. She carries a previously unreported StAR protein gene mutation.