Endocrine Abstracts

Autoimmune polyendocrine syndromes (APS) are rare groups of diseases with autoimmune failure of at least two endocrine glands. In general, APS1 first occurs with candidiasis. Hypoparathyroidism generally presents until 10 years of age, and adrenal insufficiency around 20 years. We aim to this report a young girl is presented with early onset APS1 first presenting with adrenal insufficiency.

Mucocutaneous candidiasis on the oral mucosa, and ectodermal dystrophic changes in her nails attracted attention in an 18-year-old girl in asthenic appearance who attended the Endocrinology Outpatient Clinic for malaise and failure to thrive. No hyperpigmentation was detected on the skin and mucosa on physical examination because she took corticosteroid treatment. Pubertal development was accordant with Tanner stage 5.Other systemic examinations were normal. It was learned from her anamnesis that malaise, loss of appetite, darkening in skin colour, and changes in the nails were first detected and investigated at a Paediatrics outpatient clinic she attended when she was 6 years old. As much as learned from her records at that time, her height and weight were consistent with her age, turgor was decreased, the skin was dry, there were marking, shape and color changes in the hand nails, candidiasis and skin hyperpigmentation were detected. As PTH was 2.83 pg/ml (15–65), ACTH was 1250 pg/ml (7.2–63.3), and basal cortisol was 1 μg/dl (6.2–19.4), and there was no response to Synacthen stimulation test. Adrenal insufficiency, hypoparathyroidism, and candidiasis were detected and the patient was diagnosed for APS1.

Conclusion: APSs clinically include a quite broad group of diseases. When one type of endocrinological disease is detected in a patient, the patient should be tested for complete blood count, electrolytes, hormonal levels, and antibodies for other diseases once every 3 years.