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Most endocrine tumors in children occur in the context of genetic conditions predisposing to multiple neoplasias: multiple endocrine neoplasia types 1 and 2 (MEN-1 and MEN-2), Mc-Cune Albright syndrome, Carney complex, Von Hippel-Lindau (VHL) disease, Peutz-Jeghers syndrome (PJS), Cowden disease (CD), hereditary hyperparathyroidism and jaw tumor syndrome (HPJTS), and other extraordinarily rare conditions such as the isolated paraganglioma and Carney-Stratakis syndromes, Carney triad, Burt-Hogg-Dubé, and others. Therefore, it is now essential that the evaluation and management of these patients involves experts in cancer genetics and includes formal genetic counseling. Gene testing may be offered but performed in the setting of a cancer genetic consultation which includes pretest and posttest counseling. If a family-specific mutation is found, the genetics consultant can offer mutation-specific predictive testing to relatives. A list of endocrine neoplasia syndromes and their genetic causes is provided in Table 537-1. Disease associations in the multiple endocrine neoplasia syndromes are shown in Table 537-2. In this chapter we will discuss only the MEN conditions and the related Carney complex. Pheochromocytoma is also discussed as an endocrine tumor common in a number of endocrine neoplasia syndromes.

Table 537-1. Endocrine and Other Tumors in Childhood and Young Adulthood and Their Genetic Causes
Table 537-2. Disease Associations in the Multiple Endocrine Neoplasia Syndromes

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