Performance of the pro-FHH score in a delayed diagnosis of familial hypocalciuric hypercalcemia type-1

Bilezikian, 2018, Primary hyperparathyroidism, J Clin Endocrinol Metab, 103, 3993, 10.1210/jc.2018-01225 Brachet, 2009, Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager, Eur J Endocrinol, 161, 207, 10.1530/EJE-09-0257 Lietman, 2009, A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia, J Clin Endocrinol Metab, 94, 4372, 10.1210/jc.2008-2484 Taki, 2015, Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor, Endocrinol Diabetes Metab Case Rep, 150016 Vahe, 2017, Diseases associated with calcium-sensing receptor, Orphanet J Rare Dis, 12, 19, 10.1186/s13023-017-0570-z Bhangu, 2019, Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism, Head Neck, 41, 1372, 10.1002/hed.25568 Bilezikian, 2014, Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the fourth international workshop, J Clin Endocrinol Metab, 99, 3561, 10.1210/jc.2014-1413 Christensen, 2011, Familial hypocalciuric hypercalcaemia: a review, Curr Opin Endocrinol Diabetes Obes, 18, 359, 10.1097/MED.0b013e32834c3c7c Bertocchio, 2018, Pro-FHH: a risk equation to facilitate the diagnosis of parathyroid-related hypercalcemia, J Clin Endocrinol Metab, 103, 2534, 10.1210/jc.2017-02773 Marx, 2018, Familial hypocalciuric hypercalcemia as an atypical form of primary hyperparathyroidism, J Bone Miner Res, 33, 27, 10.1002/jbmr.3339 National Center for Biotechnology Information Hannan, 2012, Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites, Hum Mol Genet, 21, 2768, 10.1093/hmg/dds105 Guarnieri, 2010, Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years, J Clin Endocrinol Metab, 95, 1819, 10.1210/jc.2008-2430 Fukumoto, 2001, Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia, Diagn Mol Pathol, 10, 242, 10.1097/00019606-200112000-00006 Wolf, 2014, Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia, J Clin Endocrinol Metab, 99, E1721, 10.1210/jc.2014-1541 Forde, 2014, Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia, BMJ Case Rep, 2014, 10.1136/bcr-2014-206473 Thorgeirsson, 1981, The parathyroid glands in familial hypocalciuric hypercalcemia, Hum Pathol, 12, 229, 10.1016/S0046-8177(81)80123-2 Mukhtar, 2021, Misleading localization by (18)F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report, BMC Endocr Disord, 21, 20, 10.1186/s12902-021-00683-z Tellam, 2020, Think twice: a rare calcium sensing receptor mutation and a new diagnosis of familial hypocalciuric hypercalcaemia, 20