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18th European Congress of Endocrinology

Symposia

Adrenal Insufficiency: Causes and management

ea0041s28.2 | Adrenal Insufficiency: Causes and management | ECE2016

Genetics of adrenal insufficiency

Fluck Christa

Genetic defects causing primary, central secondary or tertiary adrenal insufficiency (AI) belong to the group of rare diseases that involve multiple candidate genes. In primary AI adrenal defects lead to hormonal deficiencies. Underlying genetic mutations may be found either in genes involved in the development of the adrenal gland (e.g. DAX1/NR0B1) or in genes that are essential for the signaling, regulation (e.g. MC2R, MRAP) or the biosynthesis of steroid hormones (e.g. StAR...