ESPE Abstracts

Background and Objective: Autoimmune Addison’s disease is generally regarded as an irreversible progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a patient diagnosed with clinically overt Addison’s disease who showed recovery of adrenal functions over time.

Case presentation: A 10.5-year-old girl was diagnosed with celiac disease at the age of 5 and remained on a gluten-free diet with good compliance. At 7.5 years of age, she exhibited symptoms of lethargy, nausea, and vomiting associated with a darkening of color. Physical examination revealed dark pigmentation of the skin and gingiva. Baseline biochemistry was highly suggestive of Addison’s disease with sodium 142 meq/L, potassium 5.7 meq/L, basal cortisol (8 a.m.) 45.79 nmol/L (normal 82.75 to 580 nmol/L), ACTH 1250 pg/ml (<= 46.0 pg/mL), and serum renin 3.9 uIU/mL (normal 2.8 to 39.9 uIU/mL). Thyroid function was normal, and adrenal antibodies were not checked due to their non-availability in Pakistan. She was prescribed hydrocortisone tablets with sick day management. The patient took medicine for 1.5 years (9 years of age), and later the family discontinued the medication by themselves and lost follow-up. After 1.5 years (10 years of age), she presented again for follow-up. She was thriving well with a height of 140 cm (at the 50^th centile), a weight of 50 kg (> 90^th centile), and no pigmentation despite being off hydrocortisone. Investigations revealed normal serum electrolytes, normal serum renin (39.2 uIU/ml), and early morning cortisol of 408.33 nmol/L. Her synacthen testing showed basal ACTH of 282 pg/mL, 30 min serum cortisol (500 nmol/L), and 60 min cortisol of 576.63 nmol/L. The patient was not started on hydrocortisone and was kept on regular follow-up. 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

Conclusion: 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. Presently, there are no predictive models for patient recovery rates, necessitating consistent monitoring of individuals with ongoing endocrine disorders.

Keywords: Celiac disease, Addison disease, Recovery