{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:58:02Z","timestamp":1789534682768,"version":"build-2803163510"},"reference-count":44,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:p>Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial isolated hyperparathyroidism (FIHP). Distinguishing among the five syndromes is often difficult but has profound implications for the management of patient and family. The availability of specific genetic testing for four of the syndromes has improved diagnostic accuracy and simplified family monitoring in many cases but its current cost and limited accessibility require rationalisation of its use. No gene has yet been associated exclusively with FIHP. FIHP phenotypes have been associated with mutant <jats:italic>MEN1<\/jats:italic> and calcium-sensing receptor (<jats:italic>CASR<\/jats:italic>) genotypes and, very recently, with mutation in the newly identified <jats:italic>HRPT2<\/jats:italic> gene. The relative proportions of these are not yet clear. We report results of <jats:italic>MEN1<\/jats:italic>, <jats:italic>CASR<\/jats:italic>, and <jats:italic>HRPT2<\/jats:italic> genotyping of 22 unrelated subjects with FIHP phenotypes. We found 5 (23%) with <jats:italic>MEN1<\/jats:italic> mutations, four (18%) with <jats:italic>CASR<\/jats:italic> mutations, and none with an <jats:italic>HRPT2<\/jats:italic> mutation. All those with mutations had multiglandular hyperparathyroidism. Of the subjects with <jats:italic>CASR<\/jats:italic> mutations, none were of the typical FHH phenotype. These findings strongly favour a recommendation for <jats:italic>MEN1<\/jats:italic> and <jats:italic>CASR<\/jats:italic> genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that <jats:italic>HRPT2<\/jats:italic> genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP.<\/jats:p>","DOI":"10.1136\/jmg.2003.016725","type":"journal-article","created":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T13:49:15Z","timestamp":1078148955000},"page":"155-160","source":"Crossref","is-referenced-by-count":144,"title":["Genetic testing in familial isolated hyperparathyroidism: unexpected results and their 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