A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.

ABSTRACT:

Context

Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations.

Objective

This report highlights an important approach.

Methods

Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.

Results

A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred to endocrinology clinic. Notably, she presented to her primary care physician 3 years earlier complaining of left flank pain, intermittent diaphoresis, and holocranial severe headache. We confirmed severe hypertension (180/100 mm Hg) over multiple antihyper

SUBMITTER: Lam-Chung CE 

PROVIDER: S-EPMC8218934 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature