Marios Papadakis1,2, Natalie Meurer3, Theodora Margariti3, Anke Meyer3, Norbert Weyerbrock3, Cornelia Dotzenrath3. 1. Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany. marios_papadakis@yahoo.gr. 2. Department of Plastic and Hand Surgery, Helios Clinic, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany. marios_papadakis@yahoo.gr. 3. Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
Abstract
OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD: We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests. RESULTS: The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests revealed recurrent hypercalcemia, and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain. CONCLUSION: We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT.
OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD: We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests. RESULTS: The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests revealed recurrent hypercalcemia, and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain. CONCLUSION: We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT.