Lopez Fanas Raul, Goettemoeller Travis, Cedeno Keerthi, Manavalan Anjali D
Division of Endocrinology, Diabetes, and Metabolism, Montefiore Medical Center, Bronx, NY 10467, USA.
Wakefield Division, Montefiore Medical Center, Bronx, NY 10467, USA.
JCEM Case Rep. 2024 Aug 6;2(8):luae128. doi: 10.1210/jcemcr/luae128. eCollection 2024 Aug.
Ectopic ACTH secretion (EAS) accounts for 10% to 20% of all Cushing syndrome cases. Diffuse intrapulmonary neuroendocrine cell hyperplasia (DIPNECH), a poorly understood lung disease, is characterized by abnormal proliferation of neuroendocrine cells in the bronchial mucosa. It is thought to be a precursor of pulmonary carcinoid and has been associated with EAS in a handful of cases. We present 2 patients with clinical, radiological, and pathological features of DIPNECH who presented with florid Cushing syndrome secondary to EAS evidenced by rapid onset of symptoms, elevated plasma ACTH, and cortisol levels, and failed high-dose dexamethasone suppression testing. Treatment of hypercortisolism included excision of the involved lung and medical therapy with steroidogenesis inhibitors. Despite the aggressive initial management, hypercortisolism persisted. This case series highlights the importance of considering DIPNECH as a cause for Cushing syndrome in the appropriate clinical scenario and underscores the likelihood that surgery may not be curative because of the diffuse nature of this disease. Given the high mortality associated with EAS, prompt medical therapy, appropriate prophylaxis, and bilateral adrenalectomy can be lifesaving measures when initial surgery fails.
异位促肾上腺皮质激素(ACTH)分泌(EAS)占所有库欣综合征病例的10%至20%。弥漫性肺内神经内分泌细胞增生(DIPNECH)是一种了解较少的肺部疾病,其特征是支气管黏膜中的神经内分泌细胞异常增殖。它被认为是肺类癌的前驱病变,并且在少数病例中与EAS有关。我们报告了2例具有DIPNECH临床、影像学和病理学特征的患者,他们因EAS出现典型的库欣综合征,症状迅速出现、血浆ACTH和皮质醇水平升高以及高剂量地塞米松抑制试验失败可证明这一点。高皮质醇血症的治疗包括切除受累肺叶以及用类固醇生成抑制剂进行药物治疗。尽管进行了积极的初始治疗,但高皮质醇血症仍持续存在。该病例系列强调了在适当的临床情况下将DIPNECH视为库欣综合征病因的重要性,并强调由于该疾病的弥漫性,手术可能无法治愈。鉴于与EAS相关的高死亡率,当初始手术失败时,及时的药物治疗、适当的预防措施和双侧肾上腺切除术可能是挽救生命的措施。