Endocrine Abstracts

Paraganglioma and pheochromocytomas are described as sporadic and hereditary conditions. Hereditary are the lesions in the tumor syndromes Multiple endocrine neoplasia type 2 (MEN 2), Von Hippel-Lindau disease (VHL), neurofibromatosis type 1 (NF1), and the paraganglioma syndromes type 1 type 3 and type 4 (PGL1, PGL3, PGL4). The susceptibility genes are for PGL1 SDHD, PGL3 SDHC, and for PGL4 SDHB. In contrast to PLG1 and PGL4 in which numerous carriers have...

Familial pheochromocytoma is inherited as a component of one of 5 pheochromocytoma – related syndromes such as von Hippel-Lindau disease, multiple endocrine neoplasia type 2 and the paraganglioma syndromes type 1 and type 4.Neurofibromatosis type 1 is often cited as the fifth of these syndromes but a clinical-genetic characterisation does not exist. 0.1 to 5.7% of patients with neurofibromatosis type 1 have pheochromocytoma. The NF1 gene as the susc...