CONTEXT: Multiple endocrine neoplasia (MEN-1) is a rare, autosomal dominant inherited disorder. Primary hyperparathyroidism (pHPT) is the most frequent and usually the earliest expression of MEN-1, with typical age of onset at 20-25 years. Early detection of the disease and correct treatment are therefore of great importance.

CASE PRESENTATION: A 31-year-old woman with osteogenesis imperfecta was incidentally found also to have hypercalcemia and elevated PTH (pHPT). Exploratory neck surgery showed multiglandular parathyroid affection; she turned out to have MEN-1, but she was diagnosed 7 years after her debut of pHPT.

OBJECTIVE AND METHODS: The aim was to search literature on indications for performing mutational analysis in young patients with pHPT and no family history of MEN-1. PubMed was searched for English language articles, and words used were: MEN1 OR MEN-1 OR MEN type 1 OR multiple endocrine neoplasia 1 OR multiple endocrine neoplasia type 1 AND Mutational analysis OR genetic testing OR testing OR Hyperparathyroidism, primary [majr]. A total of 625 abstracts were reviewed.

RESULTS AND DISCUSSION: Whether to perform screening of patients with pHPT under the age of 30, 35, or 40 years is controversial. According to international guidelines from 2001, genetic testing is indicated only in patients with pHPT below the age of 30 years. However, in updated guidelines from 2012, it is suggested to perform genetic testing in patients with pHPT below the age of 30 years, but also at any age in patients presenting with multigland parathyroid disease.

CONCLUSIONS: The reviewed literature and the presented case illustrate the importance of this change in international guidelines, but they also raise concern for a potential underdiagnosing of patients before year 2012.