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Hereditary Hyperparathyroidism

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Abstract

Hereditary hyperparathyroidism can occur either in isolation or as part of a complex syndrome that involves other diseases. Approximately 90% of cases of primary hyperparathyroidism occur sporadically; however around 10% arise due to an inherited disease. Inherited causes of isolated hyperparathyroidism include familial isolated hyperparathyroidism, familial hypocalciuric hypercalcaemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and autosomal dominant moderate hyperparathyroidism (ADMH). Inherited syndromes that cause hyperparathyroidism include multiple endocrine neoplasia (MEN) types 1, 2 and 4 and hyperparathyroidism-jaw tumour syndrome (HPT-JT). In the absence of a family history of hyperparathyroidism or endocrine tumours, clinical clues to the presence of hereditary hyperparathyroidism include early disease onset below the age of 40 years, presence of associated endocrine tumours, presence of parathyroid carcinoma/atypical adenomas or presence of multi-gland parathyroid disease. With modern genetic techniques it is now possible to diagnose inherited causes of hyperparathyroidism quickly and accurately, resulting in significant implications for the management of the index case and their families.

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Authors and Affiliations

  1. Department of Endocrinology, The Royal Melbourne Hospital, Parkville, VIC, Australia

    Christopher J. Yates

  2. Department of Medicine, The University of Melbourne, Melbourne, VIC, Australia

    Christopher J. Yates

  3. Endocrine Surgery Unit, The Royal Melbourne Hospital, Parkville, VIC, Australia

    Julie A. Miller

  4. Department of Surgery, The University of Melbourne, Melbourne, VIC, Australia

    Julie A. Miller

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  1. Christopher J. Yates
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  1. Division of Endocrine Surgery, National University Hospital, Singapore, Singapore

    Rajeev Parameswaran

  2. Department of Endocrine Surgery, SGPGI Hospital, Lucknow, India

    Amit Agarwal

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Yates, C.J., Miller, J.A. (2018). Hereditary Hyperparathyroidism. In: Parameswaran, R., Agarwal, A. (eds) Evidence-Based Endocrine Surgery. Springer, Singapore. https://doi.org/10.1007/978-981-10-1124-5_21

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