Hella Zoltán, Tőke Judit, Patócs Attila, Varga Zsolt, Dabasi Gabriella, Kovács Gábor László, Tóth Miklós
1 Misszió Egészségügyi Központ, Endokrinológia szakrendelés Veresegyház Magyarország.
2 Semmelweis Egyetem, Belgyógyászati és Onkológiai Klinika, Endo-ERN Központ Budapest, Korányi S. u. 2/A, 1083 Magyarország.
Orv Hetil. 2023 Aug 13;164(32):1271-1277. doi: 10.1556/650.2023.32817.
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.
我们对一位69岁的女性患者进行了检查，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、双侧白内障手术以及肌肉骨骼方面的不适。未发现糖尿病。体格检查发现腹部肥胖、近端肌病以及萎缩且易受损的皮肤。“过夜”、低剂量以及长时间、低剂量地塞米松抑制试验均表明存在自主性皮质醇分泌过多（血浆皮质醇水平：172.6和153.2纳摩尔/升，临界值：50纳摩尔/升）。促肾上腺皮质激素被抑制（<1.11皮摩尔/升，正常值：1.12 - 10.75皮摩尔/升）提示为促肾上腺皮质激素非依赖性皮质醇增多症。腹部CT显示双侧肾上腺呈大结节性增大。最大结节的大小在右侧为23×20毫米，左侧为24×30毫米（平扫扫描时密度值为 - 33±37亨氏单位）。131I - 胆固醇肾上腺闪烁扫描及单光子发射计算机断层扫描/计算机断层扫描显示双侧放射性药物摄取几乎同样强烈。根据临床结果，诊断为双侧大结节性肾上腺增生伴促肾上腺皮质激素非依赖性皮质醇增多症。从外周血白细胞中获取了基因组DNA。对25个可能参与肾上腺肿瘤发生的基因进行靶向测序，发现了一个新的致病的含犰狳重复序列5（ARMC5）基因突变（c.1724del28 bp，g.31,476,067 - 31,476,094）。由于这种基因改变呈常染色体显性遗传，患者的两个孩子接受了ARMC5突变的基因筛查。在患者较年幼的孩子中发现了相同的突变。据我们所知，这是匈牙利首例发表的伴有双侧大结节性肾上腺增生和促肾上腺皮质激素非依赖性库欣综合征的ARMC5突变病例。该基因改变存在于索引患者家族的两代人中。《匈牙利医学周报》。2023年；164(32): 1271 - 1277。
