Genetic defects in pediatric-onset adrenal insufficiency in Japan

Abstract

Molecular testing elucidated the etiologies of most biochemically uncharacterized PAI patients. Genetic defects such as <i>NR0B1</i> defects are presumed based on phenotypes, while others with broad phenotypic variability, such as <i>STAR</i> defects, are difficult to diagnose. Molecular testing is a rational approach to diagnosis in biochemically uncharacterized PAI patients.