Clinical Genetics and Heritable Parathyroid Disease: Monogenic Disorders

Germline genetic tests can be extremely helpful for clinical diagnosis of patients and their families when a known deleterious change is found, but there are many reasons why gene testing and interpretation is not straightforward. This chapter pertains to monogenic conditions in which the genetic contribution to a parathyroid disorder is well-established. These disorders include: familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, hyperparathyroidism-jaw tumor syndrome and parathyroid carcinoma and multiple endocrine neoplasia types 1, 2, and 4.