Abstract Germline, in vitro activating GCM2 variants are notably overrepresented patients with primary hyperparathyroidism (PHPT), both the familial and sporadic settings. While increased compared general population, most individuals such population have a very low risk of developing PHPT. However, for those who do develop PHPT, degree to which harboring variant might impact disease severity re...

Abstract Background: Parathyroid carcinoma is a rare endocrine malignancy, that usually presents with parathyroid hormone elevations five to ten times higher than normal. It rarely diagnosed in cases normal or mildly elevated PTH. Clinical Case: 68 yo female history of Hypertension, Spontaneous Vocal Cord Paralysis, Multinodular Goiter, Breast cancer s/p right radical mastectomy/chemotherapy, a...

BACKGROUND Parathyroid carcinoma is a rare malignancy, with an incidence of 0.5 to 4% of all cases of primary hyperparathyroidism. Surgery is the only curative treatment. CASE PRESENTATION We report the case of a 66-year-old man referred for a large suspicious substernal goitre associated with severe hypercalcemia due to hyperparathyroidism. After normalization of serum calcium levels, patien...

A 72 year-old woman with primary hyperparathyroidism was operated for parathyroid crisis. PTH serum level was 808 pg/mL. During the operation, only two superior parathyroid glands were found. One was normal, and hypertrophy was revealed in the other. After the surgical procedure, PTH serum level was 726.5 pg/mL. Helical computer tomography examination showed a heterogeneous mass in the anterior...

Note Phenotypic spectrum variable; Growth: normal; Head: normal; Skin: normal; Hyperparathyroidism, jaw tumors, and kidney cysts; Hyperparathyroidism develops in about 95% of affected individuals due to parathyroid adenomas which can occur singley or multiply, with some patients undergoing several parathyroidectomies over the course of their lives; Parathyroid carcinoma develops in about 5% of ...