Journal article

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

J Warner, M Epstein, A Sweet, D Singh, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, P Birdsey, E Mackenzie, BT Teh, JB Prins, J Cardinal

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2004

Abstract

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 ..

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University of Melbourne Researchers