Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.

ABSTRACT:

Unlabelled

Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. This study was performed to evaluate whether the salt-losing crisis and the adrenal inactivity experienced by a Scandinavian infant is due to a de novo STAR mutation. The study was conducted at the University of North Dakota, the Mercer University School of Medicine and the Memorial University Medical Center to identify the cause of this disease. The patient was admitted to a pediatric endocrinologist at the Sanford Health Center for salt-losing crisis and possible adrenal failu

SUBMITTER: Kaur J 

PROVIDER: S-EPMC4815279 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature