Endocrine Abstracts

Introduction: Hypercalcaemia is uncommon in children; it may appear with classic signs/symptoms or be identified incidentally during investigations for other reasons. Causes of hypercalcaemia are diverse and include malignancy. If left untreated, hypercalcaemia causes significant morbidity and mortality. Rarely, hypercalcaemia is due to primary hyperparathyroidism, of which the main cause is a parathyroid adenoma. This should be considered in the differential of paediatric hypercalcaemia, especially in adolescence. Early diagnosis and treatment of a parathyroid adenoma removes the significant morbidity burden.

Presentation: A 15 year old girl presented to her GP with vague symptoms of lethargy, muscle aches, palpitations and general malaise. Blood results indicated hypercalcaemia (Ca2+ 3.07 mmol/l), raised PTH (10.8pmol/l) and high 1,25 Vitamin D (205pmol/l), suggestive of hyperparathyroidism. She was initially treated with hyperhydration of intravenous fluids and later pamidronate. Nuclear medicine imaging identified a rounded focus of uptake in the left inferior parathyroid gland, suggestive of a parathyroid adenoma. Renal ultrasound scan identified no nephrocalcinosis. She underwent excision of the left inferior parathyroid gland; histopathology of the lesion identified a 400 mg, encapsulated nodule with clear borders on the tissue specimen. Three months after excision of this lesion, her bone profile was entirely normal. Genetic bloods were negative for the hyperparathyroidism/ familial hypercalcaemia hypocalciuric panel.

Discussion: Primary hyperparathyroidism is a rare but a significant cause of morbidity in children, more so than in the adult population. The commonest cause of primary hyperparathyroidism in children is a parathyroid adenoma. These are usually sporadic and most often occur singularly, occasionally occurring as part of a genetic syndrome, such as multiple endocrine neoplasia (MEN). The biochemical features seen are an inappropriately high PTH in the context of hypercalcaemia. Once a parathyroid adenoma is located by scintigraphy, parathyroidectomy should be considered, usually resulting in resolution of biochemical features and symptomatology. Parathyroid adenoma should be considered in children, especially beyond the first decade of life, with hypercalcemia and high PTH and investigated accordingly.