Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic MAX variant
Stefanie Parisien-La Salle, Jonathan Legault, Nadine Dumas, Philippe Arjane, Dominique Trudel, Isabelle Bourdeau · 2026
Read Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic MAX variant by Stefanie Parisien-La Salle, Jonathan Legault, Nadine Dumas, Philippe Arjane, Dominique Trudel, Isabelle Bourdeau (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13247522.txt.
Description
Parisien-La Salle and co-authors untangled two adrenal disorders in one patient, in this 2026 JCEM Case Reports article. A twenty-nine-year-old woman was referred for excess hair growth, with high blood pressure since eighteen and early puberty signs in childhood. Scans found tumors on both adrenal glands. Hormone tests confirmed pheochromocytomas, rare tumors that flood the body with adrenaline-like chemicals, alongside a mild inherited enzyme deficiency called nonclassic congenital adrenal hyperplasia.
Both glands were removed, confirming the paired tumors. Genetic testing found two separate inherited explanations: a harmful germline change in the MAX gene, which had vanished entirely from her tumor tissue, driving the pheochromocytomas. A homozygous CYP21A2 change behind the enzyme deficiency. The authors note how rare the combination is.
Catalog record
| CREATOR | Stefanie Parisien-La Salle, Jonathan Legault, Nadine Dumas, Philippe Arjane, Dominique Trudel, Isabelle Bourdeau |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |