Kyriakakis Nikolaos, Trouillas Jacqueline, Dang Mary N, Lynch Julie, Belchetz Paul, Korbonits Márta, Murray Robert D
Leeds Centre for Diabetes and Endocrinology , St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds , UK.
Centre de Pathologie Est , Hospices Civils de Lyon, Groupement Hospitalier Est, University of Lyon, Lyon , France.
Endocrinol Diabetes Metab Case Rep. 2017;2017. doi: 10.1530/EDM-16-0104. Epub 2017 Jan 6.
A male patient presented at the age of 30 with classic clinical features of acromegaly and was found to have elevated growth hormone levels, not suppressing during an oral glucose tolerance test. His acromegaly was originally considered to be of pituitary origin, based on a CT scan, which was interpreted as showing a pituitary macroadenoma. Despite two trans-sphenoidal surgeries, cranial radiotherapy and periods of treatment with bromocriptine and octreotide, his acromegaly remained active clinically and biochemically. A lung mass was discovered incidentally on a chest X-ray performed as part of a routine pre-assessment for spinal surgery 5 years following the initial presentation. This was confirmed to be a bronchial carcinoid tumour, which was strongly positive for growth hormone-releasing hormone (GHRH) and somatostatin receptor type 2 by immunohistochemistry. The re-examination of the pituitary specimens asserted the diagnosis of pituitary GH hyperplasia. Complete resolution of the patient's acromegaly was achieved following right lower and middle lobectomy. Seventeen years following the successful resection of the bronchial carcinoid tumour the patient remains under annual endocrine follow-up for monitoring of the hypopituitarism he developed after the original interventions to his pituitary gland, while there has been no evidence of active acromegaly or recurrence of the carcinoid tumour. Ectopic acromegaly is extremely rare, accounting for <1% of all cases of acromegaly. Our case highlights the diagnostic challenges differentiating between ectopic acromegaly and acromegaly of pituitary origin and emphasises the importance of avoiding unnecessary pituitary surgery and radiotherapy. The role of laboratory investigations, imaging and histology as diagnostic tools is discussed.
Ectopic acromegaly is rare, accounting for less than 1% of all cases of acromegaly.Ectopic acromegaly is almost always due to extra-pituitary GHRH secretion, mainly from neuroendocrine tumours of pancreatic or bronchial origin.Differentiating between acromegaly of pituitary origin and ectopic acromegaly can cause diagnostic challenges due to similarities in clinical presentation and biochemistry.Serum GHRH can be a useful diagnostic tool to diagnose ectopic acromegaly.Pituitary imaging is crucial to differentiate between a pituitary adenoma and pituitary hyperplasia, which is a common finding in ectopic acromegaly.Diagnosing ectopic acromegaly is pivotal to avoid unnecessary interventions to the pituitary and preserve normal pituitary function.
一名30岁男性患者表现出肢端肥大症的典型临床特征，生长激素水平升高，口服葡萄糖耐量试验期间未被抑制。基于CT扫描（其显示为垂体大腺瘤），其肢端肥大症最初被认为起源于垂体。尽管进行了两次经蝶窦手术、颅部放疗以及使用溴隐亭和奥曲肽的治疗期，但他的肢端肥大症在临床和生化方面仍处于活跃状态。在初次就诊5年后，作为脊柱手术常规术前评估的一部分进行胸部X线检查时偶然发现肺部有一个肿块。经证实这是一个支气管类癌肿瘤，通过免疫组织化学检测，其生长激素释放激素（GHRH）和2型生长抑素受体呈强阳性。对垂体标本的重新检查确定为垂体生长激素增生症。右下叶和中叶切除术后患者的肢端肥大症完全缓解。支气管类癌肿瘤成功切除17年后，患者仍每年接受内分泌随访，以监测其在最初垂体干预后出现的垂体功能减退，同时没有肢端肥大症活跃或类癌肿瘤复发的证据。异位性肢端肥大症极为罕见，占所有肢端肥大症病例的不到1%。我们的病例突出了区分异位性肢端肥大症和垂体源性肢端肥大症的诊断挑战，并强调了避免不必要的垂体手术和放疗的重要性。讨论了实验室检查、影像学和组织学作为诊断工具的作用。
异位性肢端肥大症罕见，占所有肢端肥大症病例的不到1%。异位性肢端肥大症几乎总是由于垂体外GHRH分泌，主要来自胰腺或支气管起源的神经内分泌肿瘤。由于临床表现和生化方面的相似性，区分垂体源性肢端肥大症和异位性肢端肥大症可能会带来诊断挑战。血清GHRH可能是诊断异位性肢端肥大症的有用诊断工具。垂体影像学对于区分垂体腺瘤和垂体增生症至关重要，垂体增生症在异位性肢端肥大症中是常见发现。诊断异位性肢端肥大症对于避免对垂体进行不必要的干预并保留正常垂体功能至关重要。
