Should Primary Hyperparathyroidism at Age Below 40 Years Always Lead to Search for MEN-1, Despite Presence of Other Plausible Explanations?

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Introduction: A 30-year-old female patient with inherited osteogenesis imperfecta (OI) Type 1 was referred due to hypercalcaemia and suspicion of primary hyperparathyroidism (pHPT). She had serum ca2+ 1.56 mmol/L, serum parathyroid hormone 115 ng/ml (< 70), and pHPT was diagnosed, but no scan uptake. By exploratory neck surgery, all parathyroid glands were hyperplastic and 3 ½ parathyroid + thymus were removed. The HPT was hypothesised to be due to abnormal calcium metabolism from OI (J Endocrinol Invest 1999), although not described previously.

Aim(s): Screening for MEN1

Materials and methods: Years later a study on screening for mutations in the menin gene of all patients who had or had had pHPT found her positive (Trp341STOP). This incidental diagnosis of MEN1 had two consequences:

Conference: 9th Annual ENETSConcerence (2012)

Presenting Author:

Authors: Feldt-Rasmussen U, Rasmussen �, Friis-Hansen L,

Keywords: MEN-1, screening, pHPT,