Case Report: Somatic GNAS and CACNA1D mutations responsible for adrenal cortisol-producing adenoma with multiple aldosterone-producing micronodules—concurrence of primary aldosteronism and mild autonomous cortisol secretion

The article describes a rare case of a 63-year-old woman with a 25-year history of hypertension diagnosed with concurrent primary aldosteronism and mild autonomous cortisol secretion caused by a tumor in the right adrenal gland. The tumor was a cortisol-producing adenoma accompanied by multiple aldosterone-producing micronodules and an additional aldosterone-producing nodule. Genetic testing revealed somatic mutations in the GNAS (p.R201H) and CACNA1D (p.F1131L) genes. Histological examination showed that the main tumor had a characteristic structure with cells rich in the CYP11B1 enzyme, while adjacent nodules exhibited CYP11B2 positivity. The authors hypothesize that the identified mutations may be key factors causing the concurrent occurrence of both endocrine disorders.