An unusual case of remission of clinically overt autoimmune Addison’s disease in a Pakistani girl

Abstract

Addison’s disease is generally regarded as an autoimmune irreversible, progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a young girl diagnosed with clinically overt Addison’s disease whose adrenal function recovered over time. A 10.5 years old girl, known case of celiac disease for five years with good compliance presented at 7.5 years with complaints of dark pigmentation, lethargy, nausea, and vomiting. Physical examination showed hyperpigmentation along with orthostatic hypotension. Biochemical tests confirmed Addison’s disease, with normal electrolytes, normal renin and raised ACTH.  She was prescribed hydrocortisone tablets and showed significant improvement.  She  was lost  to follow up for three years and presented again with history that she had stopped hydrocortisone 1.5 years back and doing well. She was found clinically stable with no pigmentation, normal growth parameters and normal recent serum electrolytes. Her synacthen testing showed basal ACTH of 282 pg/mL, 30 minutes serum cortisol of 500 nmol/L, and 60 minutes cortisol of 576.63 nmol/L. In her last visit (11 years of age), she was thriving well, with an early morning ACTH of 126 pg/mL and a cortisol level of 510 nmol/L. This is the first case in children with clinical remission of autoimmune Addison’s disease. We suggest re-assessing the adrenal axis by synacthen test in children and adolescents with Addison disease, especially those whose hydrocortisone doses are gradually decreasing, to check for remission.