April - June 2016, Volume 12, Issue 2

Alghamdi KB, AlReefi MA

Delayed Diagnosis of a Hyper Functioning Parathyroid Cyst. A Case Report and Genetic Analysis

Acta Endo (Buc) 2016, 12 (2): 215-218
doi: 10.4183/aeb.2016.215

Objective. Parathyroid cyst is a rare disorder of the parathyroid, with a clinical presentation ranging from a nonsymptomatic mass to severe acute parathyroid crisis. We present here a case of a 73-year-old man who had a neck mass for 5 months before presenting to the emergency room with symptoms of severe hypercalcemia. The investigations during his admission led to the suspicion of a hyperfunctioning parathyroid cyst causing the hyperparathyroidism. Total parathyroidectomy was done. The mass was resected and confirmed to be a functional parathyroid cyst. Patient’s calcium levels returned to normal after excision. Genetic analysis of the mass showed a single missense mutation c.2164G>A (NM_000215), p.Val722ile (NP_000206) was identified representing the single-nucleotide polymorphism rs3213409 in the JAK3 gene. Conclusion. Parathyroid cysts, although rare, should be considered in a patient with a neck mass and hypercalcemia, We discussed the findings of our genetic analysis.

Keywords: Parathyroid, cyst, functional, hypercalcemia, genetic, analysis.

Correspondence: Mahmoud Abdullah AlReefi MD, 360 René-Lévesque Blvd W, Apt. 2806, Montreal, Quebec, H2Z 0A7, Canada, E-mail: m_alreefi@yahoo.com