我们对一名69岁的女性患者进行了调查，她在两年内体重增加了20公斤。患者的病史包括高血压、高尿酸血症、双侧白内障手术和肌骨疾患。未发现糖尿病。体格检查发现腹部肥胖，近端肌无力和萎缩易损皮肤。"过夜"、低剂量和长期低剂量地塞米松抑制试验表明，皮质醇的自主过多产生（血浆皮质醇水平：172.6和153.2 nmol/L，截断值：50 nmol/L）。抑制的促肾上腺皮质激素（ACTH）（<1.11 pmol/L，正常值：1.12-10.75 pmol/L）提示ACTH非依赖性高皮质醇血症。腹部CT显示双侧肾上腺巨结节增大。最大结节的尺寸为右侧23 × 20毫米，左侧24 × 30毫米（原始扫描时的密度值为-33 ± 37 HU）。131I-胆固醇肾上腺显像和SPECT/CT显示两侧放射性药物摄取基本相等。根据临床结果，诊断为与ACTH非依赖性高皮质醇血症相关的双侧巨结节性肾上腺增生。我们从外周血白细胞中获取了基因组DNA。对25个可能与肾上腺肿瘤发生相关的基因进行有针对性的测序，发现了一种新的致病性装甲重复蛋白5（ARMC5）基因突变（c.1724del28 bp，g.31,476,067-31,476,094）。由于该遗传突变的常染色体显性遗传性，患者的两个孩子接受了ARMC5突变的基因筛查。我们患者的较小孩子中也发现了相同的突变。据我们所知，这是匈牙利首例出版的具有与ACTH非依赖性库欣综合症相关的双侧巨结节性肾上腺增生的ARMC5变异病例。该基因变异存在于索引患者家族的两代人中。《医学杂志》2023年；164（32）：1271-1277。

Our 69-year-old female patient was investigated for a 20 kg weight gain over 2 years. The patient's medical history included hypertension, hyperuricemia, bilateral cataract surgery and musculosceletal complaints. Diabetes mellitus was not found. Physical examination revealed abdominal obesity, proximal myopathy and atrophic, vulnerable skin. The "overnight", low-dose and long, low-dose dexamethasone suppression tests indicated autonomous cortisol overproduction (plasma cortisol level: 172.6 and 153.2 nmol/L, cut-off: 50 nmol/L). The suppressed ACTH (<1.11 pmol/L, normal value: 1.12-10.75 pmol/L) suggested ACTH-independent hypercortisolism. Abdominal CT described macronodular enlargement of both adrenals. The size of the largest nodule was 23 × 20 mm in the right, and 24 × 30 mm on the left side (with -33 ± 37 HU density values on native scans). The 131I-cholesterol adrenal scintigraphy and SPECT/CT showed almost equally intensive radiopharmacon uptake on both sides. Based on the clinical results, bilateral macronodular adrenal hyperplasia associated with ACTH-independent hypercortisolism was diagnosed. Genomic DNA was obtained from the peripheral blood leukocytes. Targeted sequencing of 25 genes potentially involved in adrenal tumorigenesis revealed a new disease-causing armadillo repeat-containing 5 (ARMC5) gene mutation (c.1724del28 bp, g.31,476,067-31,476,094). Because of the autosomal dominant inheritance of this genetic alteration, the patient's two children underwent genetic screening for the ARMC5 mutation. The same mutation was found in the younger child of our patient. To the best of our knowledge, this is the first published Hungarian case of ARMC5 mutation with bilateral macronodular adrenal hyperplasia and ACTH-independent Cushing's syndrome. The genetic alteration is present in two generations of the family of the index patient. Orv Hetil. 2023; 164(32): 1271-1277.