Primary Adrenal Insufficiency: New Genetic Causes and Their long-Term Consequences

Federica Buonocore; John C. Achermann

Disclosures

Clin Endocrinol. 2020;91(1):11-20. 

In This Article

Conclusions

The genetics of many rare forms of primary adrenal insufficiency is gradually being elucidated. Making a specific diagnosis can have implications for immediate management and for monitoring long-term care. Milder or nonclassic forms of adrenal dysfunction can sometimes first present in teenage years or adulthood. In some situations, these individuals may have been labelled as having "Addison's" disease and more detailed genetic investigations to find a specific cause have not been undertaken.

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