ESPE Abstracts

Background: Autoimmune destruction of the adrenal cortex is the cause of primary adrenal insufficiency in 45% to 55% of cases in children.

Case presentation: A 10-year and 10-month-old female was admitted to the Pediatric Endocrinology Clinic for evaluation of suspected adrenal insufficiency. The girl reported longstanding complaints of fatigue, loss of appetite, recurrent gastric symptoms and salt craving. Medical history was significant for hospitalization at the age of 4 years and 11 months, when she presented with vomiting and dehydration and was found underweight (BMI SDS: -5.71), with a biochemical profile indicative of adrenal insufficiency (sodium 131 mEq/L, potassium 5,8 mEq/L, serum glucose 56 mg/dl, urinary sodium excretion 50 mmol/l). She was managed with intravenous hydration and readmission at the Pediatric Endocrinology Clinic was planned upon discharge; however, the family failed to attend the scheduled appointment. During the last months, extreme exhaustion and daily consumption of large amounts of salt prompted a second referral by the pediatrician. On examination, the girl was severely underweight (BMI SDS: -4.26), with normal female external genitalia, absent axillary and pubic hair and breast Tanner stage II-III. Generalized hyperpigmentation was noted, without mucosal candidiasis. Weight was 25 kg (1^st percentile), stature 146 cm (67^th percentile) and blood pressure 93/66 mm Hg. Investigations showed normal glucose and electrolytes (sodium 135 mEq/L, potassium 4.4 mEq/L, calcium 9.4 mg/dl, phosphorus 5.0 mg/dl), low morning level of cortisol (0.7 μg/dl), and extremely elevated ACTH (5690, reference: 7-64 pg/ml). Plasma Renin Activity was elevated at 24.48 (0.5-4.7 ng/ml/h) and aldosterone inappropriately normal at 11.8 ng/dl (3.0-28). Cortisol was unresponsive to standard ACTH stimulation with peak level at 0.75 mcg/dL. She was started on stress doses of hydrocortisone with dramatic improvement in clinical status and then transitioned to oral hydrocortisone and fludrocortisone. Adrenal cortex autoantibodies are positive. The girl was also diagnosed with autoimmune thyroid disease and celiac disease, while no signs of hypoparathyroidism were detected. Thus, her diagnosis is Autoimmune Polyglandular Syndrome type 2, characterized by Addison’s disease and either autoimmune thyroid disease or type 1 diabetes mellitus.

Conclusions: Clinical and biochemical profile of the patient, at the age of 4 years and 11 months, elucidates that the diagnosis was present for over 6 years. This case report highlights that symptoms of adrenal insufficiency are often underestimated by patients and possibly physicians, leading to delayed diagnosis.