• Antonio, Orlando Falcon
• Arízaga-Ramírez, Rebeca
• Chávarri-Guerra, Yanin
• Weitzel, Jeffrey N.
• Vázquez, Jazmín Arteaga
• López-Hernández, María Aurelia
• Gómez-Pérez, Francisco Javier
• González, Jazmín De Anda
• Castillo, Danielle
• Lam, Cesar
• Rodríguez, Larissa López
• Cuevas-Ramos, Daniel

Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Context</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>This report highlights an important approach.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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 antihypertensive regimens. Biochemical and radiological studies workup revealed high plasma metanephrine of 255 pg/mL (normal range, &amp;lt; 65 pg/mL) and plasma normetanephrine of 240 pg/mL (normal range, &amp;lt; 196 pg/mL). A noncontrast computed tomography scan of the abdomen revealed a 4.2 × 4.3 × 4.9-cm, round-shaped and heterogenous contrast enhancement of the left adrenal gland, and a 2-mm nonobstructive left kidney stone. A presumptive diagnosis of secondary hypertension was made. After pharmacological therapy, laparoscopic left adrenalectomy was performed and confirmed the diagnosis of pheochromocytoma. Based on her age, family history, and a high suspicion for genetic etiology, genetic testing was performed that revealed the presence of a novel likely pathogenic variant involving a splice consensus sequence in the MAX gene, designated c0.64-2A &amp;gt; G.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c0.64-2A &amp;gt; G mutation is reported here and should be considered in the diagnostic workup of similar cases.</jats:p></jats:sec>

Topics

• impedance spectroscopy
• size-exclusion chromatography
• computed tomography scan