Cardiac Paraganglioma
Catecholamine-secreting tumors (pheochromocytoma and paraganglioma [PPGL]) can be found in the midline from the inner ear to the scrotum. However, most (≈85%) are located in the adrenal glands and 95%…
ENDOCRINOLOGY
Skull Base and Neck Paragangliomas: Considerations for the Endocrinologist
Paragangliomas (PGLs) arise from paraganglia in the parasympathetic and sympathetic chains, which track along large blood vessels. PGLs can be found from the skull base and inner ear to the…
The Cystic Pheochromocytoma
As pheochromocytomas enlarge, they develop areas of hemorrhagic necrosis. Most pheochromocytomas >4 cm in diameter have some cystic component that is evident on computed cross-sectional imaging. Some pheochromocytomas become progressively…
Bilateral Pheochromocytoma in a Patient With MYC-Associated Protein X ( MAX) Genetic Predisposition
Pheochromocytoma and paraganglioma (PPGL) are associated with a genetic predisposition in at least 40% of patients and likely 100% when presenting with bilateral or multifocal PPGL. Most patients with bilateral…
Pheochromocytoma in a Patient With von Hippel-Lindau Disease
Pheochromocytoma and paraganglioma (PPGL) are associated with a genetic predisposition in at least 40% of patients. Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome that manifests by the retinal,…
New Diagnosis of Multiple Endocrine Neoplasia Type 2A in a Patient With Bilateral Pheochromocytomas
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant disorder caused by the mutations in the rearranged during transfection (RET) protein. Patients with MEN2A present with medullary thyroid carcinoma,…
Metyrosine Use in a Patient With Metastatic Pheochromocytoma
The treatment of choice for pheochromocytoma is complete surgical resection. The success of surgery depends on the experience and expertise of a multidisciplinary team that includes an endocrinologist, endocrine surgeon,…
Pheochromocytoma in a Patient With Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by mutations in the NF1 gene located on chromosome 17q11.2. Approximately 50% of patients with NF1 present with de novo…
Huge Catecholamine-Secreting Tumor
The average size of a symptomatic catecholamine-secreting tumor is 4.5 cm. Some of the very large pheochromocytomas or paragangliomas (PPGLs) (e.g., >10 cm in diameter) are biochemically nonfunctioning. However, there…
The “Prebiochemical” Pheochromocytoma
All pheochromocytomas are biochemically undetectable when small—they require a sizable “factory” to become biochemically detectable. Thus publications that report that a laboratory test is 98% or 100% sensitive in detecting…
