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- Title
Should Primary Hyperparathyroidism at Age Below 40 Years Always Lead to Search for MEN-1, Despite Presence of Other Plausible Explanations?
- Authors
Feldt-Rasmussen, U.; Rasmussen, Å. K.; Friis-Hansen, L.
- Abstract
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 1/2 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 MEN 1 had two consequences. Results: 1. Full work-up for all possible MEN1 organ manifestations revealed no other affections. Recently she has had doubling of Chromogranin A, currently under investigation. 2. Her 13-year-old daughter, negative for OI, was positive for MEN-1, and already had mild pHPT. Conclusion: The patient had a bone disease, which could potentially explain the HPT; thus her concomitant mutation in the menin gene, shared by her daughter, was only discovered incidentally during a research project. It should therefore be underscored that all patients with pHPT younger than age 40 should be screened for MEN-1 mutations independent of other concomitant diseases, in order for proper genetic counseling and disease management of patients and family members.
- Subjects
OSTEOGENESIS imperfecta; HYPERPARATHYROIDISM; PARATHYROID hormone; GENETIC counseling; DISEASE management; PARATHYROID glands; MENIN; PATIENTS
- Publication
Neuroendocrinology, 2012, Vol 96, p30
- ISSN
0028-3835
- Publication type
Article