Zhang Sherry, Lo Joan C, Jaffe Marc G, Arzumanyan Hasmik
Department of Adult and Family Medicine, Kaiser Permanente Oakland Medical Center, Oakland, California.
Department of Endocrinology, Kaiser Permanente Oakland Medical Center, Oakland, California.
AACE Clin Case Rep. 2023 Apr 23;9(5):142-145. doi: 10.1016/j.aace.2023.04.009. eCollection 2023 Sep-Oct.
BACKGROUND/OBJECTIVE: Ectopic Cushing syndrome can be challenging to diagnose when its presentation is atypical. Herein, we highlight features of ectopic adrenocorticotropic hormone (ACTH) syndrome in a patient with worsening hypertension, hypokalemia, ACTH-dependent hypercortisolism, and disproportionate elevation in serum androstenedione levels.
A 59-year-old woman presented with rapidly progressing hypertension, severe hypokalemia, confusion, and weakness. Her medical history included well-controlled hypertension receiving amlodipine 5 mg/day, which worsened 3 months prior to admission requiring losartan and spironolactone therapy, with twice daily potassium supplementation. Physical examination was notable for bruising, muscle wasting, thin extremities, facial fullness, and abdominal adiposity despite body mass index 17 kg/m. Laboratory evaluation showed potassium 2.6 mEq/L (3.5-5.3), morning cortisol >50 mcg/dL (8-25), 24-hour urine cortisol 8369 mcg/day (<50), ACTH 308 pg/mL (<46), androstenedione 398 ng/dL (20-75), dehydroepiandrosterone sulfate 48 mcg/dL (≤430), and testosterone 11 ng/dL (≤4.5) levels. A 3.8-cm carcinoid right lung tumor was identified, and resection was performed with clean margins. Cortisol, androstenedione, and potassium levels rapidly normalized postoperatively and blood pressure returned to baseline, well-controlled on amlodipine.
Our case illustrates disproportionate elevation in androstenedione levels despite normal dehydroepiandrosterone sulfate and testosterone in a woman with ectopic ACTH syndrome. Limited reports have observed similar discordance in androgen profiles in ectopic versus pituitary ACTH hypersecretion, potentially attributable to differential activation of androgen biosynthesis.
Adrenal androgen assessment may help differentiate pituitary versus ectopic ACTH secretion in which androstenedione is elevated, but studies are needed to determine whether disproportionate androstenedione elevation reliably predicts the origin of ACTH excess.
背景/目的：异位库欣综合征若表现不典型，诊断可能具有挑战性。在此，我们重点介绍一名患有高血压加重、低钾血症、促肾上腺皮质激素（ACTH）依赖性皮质醇增多症且血清雄烯二酮水平不成比例升高的患者的异位促肾上腺皮质激素综合征特征。
一名59岁女性出现快速进展的高血压、严重低钾血症、意识模糊和虚弱。她的病史包括接受氨氯地平5毫克/天治疗且血压控制良好，但入院前3个月病情恶化，需要使用氯沙坦和螺内酯治疗，并每日两次补充钾。体格检查发现有瘀斑、肌肉萎缩、四肢纤细、面部饱满和腹部肥胖，尽管体重指数为17千克/平方米。实验室检查显示血钾2.6毫当量/升（3.5 - 5.3）、清晨皮质醇>50微克/分升（8 - 25）、24小时尿皮质醇8369微克/天（<50）、促肾上腺皮质激素308皮克/毫升（<46）、雄烯二酮398纳克/分升（20 - 75）、硫酸脱氢表雄酮48微克/分升（≤430）以及睾酮11纳克/分升（≤4.5）。发现右肺有一个3.8厘米的类癌肿瘤，并进行了切缘阴性的切除手术。术后皮质醇、雄烯二酮和血钾水平迅速恢复正常，血压恢复到基线，使用氨氯地平控制良好。
我们的病例表明，在一名异位促肾上腺皮质激素综合征女性中，尽管硫酸脱氢表雄酮和睾酮正常，但雄烯二酮水平却不成比例地升高。有限的报告观察到异位与垂体促肾上腺皮质激素分泌过多时雄激素谱存在类似的不一致，这可能归因于雄激素生物合成的不同激活。
肾上腺雄激素评估可能有助于区分垂体性与异位促肾上腺皮质激素分泌，其中雄烯二酮升高，但需要研究以确定雄烯二酮不成比例升高是否能可靠地预测促肾上腺皮质激素过多的来源。
