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Hyperparathyroidism in Complex Genetic Disorders

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Polyendocrine Disorders and Endocrine Neoplastic Syndromes

Part of the book series: Endocrinology ((ENDOCR))

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Abstract

Hyperparathyroidism is defined as an excess of parathyroid hormone (PTH) level in blood, due to prolonged overactivity of one or more parathyroid glands. Primary hyperparathyroidism (PHPT) is caused by an idiopathic defect of parathyroid growth and/or activity, and it can manifest as sporadic disease or, rarely, within the context of complex genetic disorders (up to 10% of cases).

Genetic PHPT can manifest as isolated clinical manifestation (nonsyndromic inherited PHPT) or within specific syndromes in association with other endocrine and nonendocrine clinical manifestations (syndromic inherited PHPT). Nonsyndromic inherited PHPT includes familial isolated hyperparathyroidism (FIHPT), familial hypocalciuric hypercalcaemia (FHH), and neonatal severe primary hyperparathyroidism (NSPHPT). Genetic syndromes presenting PHPT include multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 4 (MEN4), and hyperparathyroidism-jaw tumor syndrome (HPT-JT). PHPT in these complex genetic disorders is inherited usually as an autosomal dominant tract by one affected parent, independently by sex, with a transmission risk of 50%. Penetrance, age of onset, and clinical characteristics of PHPT are variable, in mutation carriers, for each of these complex disorders. The clinical management of these PHPT varies considerably, thus, a differential diagnosis is important; genetic testing is a helpful tool.

Here we review the main clinical characteristics and genetic bases of all these genetic PHPT forms, as well as differential diagnosis and current available therapies.

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Authors and Affiliations

  1. Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

    Francesca Marini, Francesca Giusti & Maria Luisa Brandi

Authors
  1. Francesca Marini
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  2. Francesca Giusti
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  3. Maria Luisa Brandi
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Corresponding author

Correspondence to Maria Luisa Brandi .

Editor information

Editors and Affiliations

  1. Neuroendocrine Unit, University of Naples Federico II Neuroendocrine Unit, Naples, Italy

    Annamaria Colao

  2. Dept. Experimental Medicine, University of L'Aquila Dept. Experimental Medicine, L'Aquila, Italy

    Marie-Lise Jaffrain-Rea

  3. Department of Endocrinology, Centre Hospitalier Universitaire de Lièg Department of Endocrinology, Liège, Belgium

    Albert Beckers

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Marini, F., Giusti, F., Brandi, M.L. (2019). Hyperparathyroidism in Complex Genetic Disorders. In: Colao, A., Jaffrain-Rea, ML., Beckers, A. (eds) Polyendocrine Disorders and Endocrine Neoplastic Syndromes. Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-319-73082-0_15-1

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  • DOI: https://doi.org/10.1007/978-3-319-73082-0_15-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-73082-0

  • Online ISBN: 978-3-319-73082-0

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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