News about the genetics of congenital primary adrenal insufficiency
2018
Abstract Primary
adrenal insufficiency(PAI) is characterized by impaired production of
steroid hormonesdue to an
adrenal cortexdefect. 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-
adrenalmanifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas.
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