Endocrine Abstracts

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...