Endocrine Abstracts

Introduction: Autoimmune polyglandular syndrome type 1 (APS1) – severe disease that is rare in pediatric practice. Clinical sings of APS1 are quite diverse, new components may manifest at any age. Their timely diagnosis is critically important, some symptoms can threaten patient’s life. We present our own clinical observation of the APS1 course in siblings.

Case report: A 10-year-old previously healthy boy presented with severe weakness, drowsiness, weight loss, craving salty foods. Physical exam showed skin hyperpigmentation and low blood pressure. Patient had candidiasis of his oral mucosa and nails. Investigations showed the low serum calcium, sodium and high serum phosphorous and potassium levels. Cortisol level was 57.4 nmol/l (171–720) and ACTH level was 2006 pmol/l (7.2–63.3). Values of other indicators were in norm (TSH–4,1 mIU/l, GADA–0,38). Treatment of primary adrenal insufficiency with hydrocortisone and fludrocortisone was started. For hypoparathyroidism correction boy was commenced on calcitriol, calcium and vitamin D3 supplements. The patient responded well to treatment with normalization of the overall health and positive dynamics at laboratory inspection.

The patient’s 8-year-old sister was diagnosed with the primary hypoparathyroidism at the age of 6 years on the basis of low serum ionized calcium (0.7 mmol/l) and PTH levels (5.5 pg/ml). A treatment with calcitriol, calcium and vitamin D3 supplementation was started. She was noted to have candida infection of her mouth requiring frequent antifungal treatment. Considering existence of APS1 in a family the additional examination was conducted. GADA were positive, that points to high risk of T1DM. Other studied indicators were in norm. Genetic testing of patients with APS1 in Belarus is not conducted.

Conclusion: It was shown that it is extremely important to supervise all children in family which already has a child with APS1. Families should be made aware of the potential later manifestations of the syndrome.