The impact of different treatment strategies on long-term cognitive and metabolic health in primary adrenal insufficiency

In primary adrenal insufficiency (congenital adrenal hyperplasia (CAH) and Addison´s disease) the impaired cortisol and aldosterone synthesis requires life-long hormonal replacement therapy. In CAH, there is an over-production of androgens that virilize the external genitalia in female fetuses. Women with Addison´s lack adrenal androgens which may affect the well-being and libido.

There is limited research how glucocorticoids affect the neurobiology, cognition, well-being in patients with adrenal insufficiency.The purpose of the study is to investigate the effects of current- and novel treatment strategies on brain function and structure in patients with primary adrenal insufficiency.

We also address the impact on metabolism in CAH.

In addition, the modulating effect of androgen therapy in women with Addison´s disease is investigated.In CAH there is a possibility to treat with dexamethasone (DEX) in utero to reduce virilization in females. The purpose of the study is to evaluate and improve this rare treatment and to address the safety issues.

We aim to develop non-invasive prenatal diagnostics to avoid treatment in those that do not benefit and minimize potential sequel.

We investigate the DEX effects on metabolism, cognitive development and brain structure and function.We use biochemical assessments, neurocognitive tests, and self-rated questionnaires for assessment of behavior/mood and quality of life as well as structural and functional MRI of the brain.