Endocrine Abstracts

Autoimmune polyglandular syndromes (APS) are a rare group of autoimmune disorders that affect more than one endocrine gland, although non-endocrine organs can be involved. Concerning the variable evolution of this clinical entity over time, our case aims to emphasise the importance of regular follow-up and screening for polyglandular autoimmunity in selected patients in order to decrease a possibility of future complications consistent with APS. We report the case of a 20-year-old female presented with frequent episodes of hypoglycemia over the last 2 years, extreme fatigue, weight loss, nausea, vomiting, abdominal pain and secondary amenorrhea. She was diagnosed with type 1 diabetes mellitus (T1DM) at the age of 6 years and necrobiosis lipoidica at 9 years. Her mother has primary hypothyroidism and celiac disease while her second-degree maternal lineage was positive for type 2 diabetes mellitus, brain tumour, Wiskott-Aldrich syndrome and primary immune thrombocytopenia. On physical examination, she was unconscious, hypotensive, with diffuse cutaneous hyperpigmentation and BMI of 17.6 kg/m². Initial biochemical investigations showed blood glucose of 0.8 mmol/l, hyponatremia, hyperkalemia, low-normal calcium level (ionized calcium 1.12 mmol/l), hemoglobin A1c of 11.1%. Serum cortisol in daily profile was 19.2.13.3.16.4 nmol/l, ACTH 668.7 pg/ml (7.2–63.3 pg/ml), anti-adrenal antibodies positive at 1 in 160 dilutions. PTH 1,73 pmol/l (1.6–8.6 pmol/l), vitamin D 19.6 nmol/l. Anti-ovarian antibodies 14 U/ml (normal below 10 U/ml). Thyroid hormones and antibodies and were normal; screening for celiac disease negative. The diagnosis of autoimmune adrenal insufficiency was established and the treatment with Hydrocortison initiated, with good clinical response on 3-month follow-up visit. Menstrual cycles are resumed. PTH and calcium values are still low-normal, despite vitamin D supplementation, requiring additional periodical assessment. In a patient with T1DM and a positive family history, further recommendations are needed to alert psysicians about timely serological screening for coexistence of other autoimmune disorders in order to exclude APS.