News about the genetics of congenital primary adrenal insufficiency

Abstract

Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on genes unrelated to the adrenal gland. Identification of causal mutations in a gene responsible for PAI allows genetic counseling, guidance of follow-up and prevention of complications. This is particularly true for stress oxidative anomalies, as extra-adrenal manifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas.

Keywords: Adrenal development; Développement de la surrénale; Genetics; Génétique; Insuffisance surrénale primaire; Massively parallel sequencing; Primary adrenal insufficiency; Steroid biosynthesis; Stéroïdogenèse; Séquençage parallèle massif.