A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.
J Endocr Soc
; 5(8): bvab085, 2021 Aug 01.
Article
in En
| MEDLINE
| ID: mdl-34169220
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 antihypertensive regimens. Biochemical and radiological studies workup revealed high plasma metanephrine of 255 pg/mL (normal range, <â 65 pg/mL) and plasma normetanephrine of 240 pg/mL (normal range, <â 196 pg/mL). A noncontrast computed tomography scan of the abdomen revealed a 4.2â ×â 4.3â ×â 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 c0.64-2Aâ >â G.CONCLUSION:
The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c0.64-2Aâ >â G mutation is reported here and should be considered in the diagnostic workup of similar cases.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
J Endocr Soc
Year:
2021
Document type:
Article
Affiliation country: