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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic MAX
Stefanie Parisien-La Salle1, Jonathan Legault1, Nadine Dumas2
1Division of Endocrinology, Department of Medicine and Research Center, Centre hospitalier de L'Université de Montréal (CHUM), Québec, Canada H2X 0C1.
Abstract:
We present the case of a patient with bilateral pheochromocytomas and newly diagnosed nonclassical congenital adrenal hyperplasia (NCCAH). While NCCAH is relatively common, pheochromocytomas are extremely rare. The patient is a 29-year-old woman who was referred for investigation of hirsutism, with a past medical history of hypertension since the age of 18 and precocious pubarche. Magnetic resonance imaging (MRI) showed a right adrenal mass of 4.4 × 4.7 cm and a left adrenal mass of 2.9 × 2.9 cm. Biochemical testing confirmed NCCAH and also revealed elevated 24-hour urinary catecholamines, as well as increased plasma metanephrines. The patient underwent bilateral adrenalectomy, which confirmed the diagnosis of bilateral pheochromocytomas. Genetic testing identified a heterozygous pathogenic germline variant in the MAX gene (deletion exons 1-2) that led to complete loss of expression of MAX in the tumors. Moreover, CYP21A2 gene sequencing revealed a germline homozygous CYP21A2 c.844G> T (p.Val282Leu) pathogenic variant supporting the diagnosis of NCCAH. In summary, this case presents the rare coexistence of bilateral pheochromocytomas with a germline MAX pathogenic variant and NCCAH.
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