Endocrine Abstracts

A 37-year-old lady was referred to the endocrine clinic with a raised serum calcium of 2.73 mmol/l in the presence of an inappropriately raised parathyroid hormone of 8.7 pmol/l. Calcium:creatinine clearance ratio was elevated at 0.018, excluding familial hypercalcaemic hypocalciuria. Past medical history revealed an episode of renal stones 17 years ago but a renal ultrasound excluded nephrocalcinosis.

A diagnosis of primary hyperparathyroidism was made.

Sporadic hyperparathyroidism is due to a single adenoma in around 80% of cases so pre-operative localization studies are frequently performed to enable minimally invasive approaches. However the patient’s young age of onset raises the possibility of an inherited predisposition, for example MEN 1 or 2.

Parathyroid glandular involvement is more diffuse in MEN than in sporadic hyperparathyroidism and removal of all four glands is therefore the preferred option. Patients are however rendered permanently hypoparathyroid and dependent on lifelong alphacalcidol with calcium supplements. Therefore the patient was referred for genetic and biochemical screening for MEN, as a positive result would dramatically alter the surgical management and render pre-operative localization redundant.

This case study highlights the importance of considering MEN1 or 2 syndromes in young patients presenting with primary hyperparathyroidism prior to localization studies or surgery.