Multiple Endocrine Neoplasia and Familial Isolated Pituitary Adenoma in the Paediatric Population

The recognition of an genetic endocrine syndrome in a patient could have significant benefits to the management of a particular phenotype (for example, decision on parathyroid surery in MEN1 syndrome); can lead to diagnosis of other manifestations of the disease (screening for phaechromocytome in a patient with medullary thyroid cancer and MEN2A); can benefit family members via recognition of carrier status or relief of conformation on non-carrier status; can lead to procedures resulting in offspring not carrying the disease and can provide explanation and often psychological relief for the patient regarding the cause of the illness and finally can advance research leading to better diagnostics and treatments (RET-specific tyrosine kinase inhibitors). Diagnosis of a genetic condition particularly in children has added complexities, due to the issue regarding consent for testing and long-term medical and sometimes legal consequnces of disease predisposition. In this chapter, we discuss a range of endocrine tumour syndromes (MEN1, MEN2, MEN4, MEN5, Hereditary Paraganglioma-Phaeochromocytoma, von Hippel-Lindau disease, Familial Isolated Pituitary Adenoma and DICER1 syndrome).