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Subcentimetric papillary thyroid carcinoma with extensive lymph node and brain metastasis: case report and review of literature. 甲状腺乳头状癌伴广泛淋巴结和脑转移:病例报告和文献综述。
IF 0.9 Q3 Medicine Pub Date : 2023-12-18 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0025
Andreia Amado, Elisabete Teixeira, Sule Canberk, Sofia Macedo, Bárbara Castro, Hugo Pereira, João Varanda, Susana Graça, Amélia Tavares, Carlos Soares, Maria João Oliveira, Manuel Oliveira, Paula Soares, Manuel Sobrinho Simões, Antónia Afonso Póvoa

Summary: We report a 61-year-old male patient without personal history of thyroid carcinoma or radiation exposure. In 2011, he presented with a cervical mass whose biopsy diagnosed a papillary thyroid carcinoma (PTC) in a lymph node metastasis (LNM). Total thyroidectomy with lymphadenectomy of central and ipsilateral compartment was performed. Histopathology identified a 2 mm follicular variant of PTC and LNM in 25/25 lymph nodes. The patient was treated with 150 mCi of radioactive iodine (RAI), followed by levothyroxine suppressive therapy. In 2016, a retrotracheal mass was diagnosed, suggesting local recurrence; patient was submitted to surgical excision and RAI therapy (120 mCi). Due to seizures, in 2019, a brain CT was performed that diagnosed brain metastases. The patient underwent debulking of the main lesion. Histopathology analysis confirmed a metastatic lesion with variated morphology: classical PTC and follicular pattern and hobnail and tall cell features. Molecular analysis revealed BRAFV600E in LNM at presentation and BRAFV600E and TERT promoter (TERTp) mutations in the recurrent LNM and brain metastasis. Based upon this experience we review the reported cases of subcentimetric PTC with brain metastases and discuss the molecular progression of the present case.

Learning points: Papillary microcarcinoma (PMCs) usually have very good prognosis with low impact on patient survival. PMCs presenting in elderly patients with LNM at diagnosis may carry a guarded outcome. Brain metastasis although rare indicate aggressive phenotypic features. Patient risk stratification of PMCs based on histopathological analysis and genetic testing may have a significant impact on prognosis providing therapeutic markers, that may predict disease progression and overall outcome.

摘要:我们报告了一名61岁的男性患者,他个人没有甲状腺癌病史或辐射暴露史。2011 年,他出现颈部肿块,活检诊断为淋巴结转移性甲状腺乳头状癌(PTC)。医生对他进行了甲状腺全切除术,并切除了中央和同侧的淋巴结。组织病理学检查发现,患者患有 2 毫米的滤泡型 PTC,25/25 个淋巴结中有 LNM。患者接受了 150 mCi 的放射性碘(RAI)治疗,随后接受了左甲状腺素抑制治疗。2016 年,诊断出气管后肿块,提示局部复发;患者接受了手术切除和 RAI 治疗(120 mCi)。由于癫痫发作,患者于2019年接受了脑CT检查,确诊为脑转移。患者接受了主要病灶的切除术。组织病理学分析证实,转移灶具有不同的形态:经典的PTC和滤泡型,以及梭形细胞和高细胞特征。分子分析显示,发病时 LNM 中存在 BRAFV600E,复发的 LNM 和脑转移灶存在 BRAFV600E 和 TERT 启动子(TERTp)突变。基于这一经验,我们回顾了已报道的亚高发 PTC 脑转移病例,并讨论了本病例的分子进展:乳头状微癌(PMC)通常预后良好,对患者生存影响较小。诊断时为LNM的老年乳头状微腺癌患者的预后可能较差。脑转移虽然罕见,但显示出侵袭性表型特征。根据组织病理学分析和基因检测对 PMC 患者进行风险分层可能会对预后产生重大影响,提供治疗标记物,预测疾病进展和总体预后。
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引用次数: 0
Complete recovery after glucocorticoid replacement therapy in a case of primary adrenal insufficiency caused by adrenal tuberculosis infection. 一例由肾上腺结核感染引起的原发性肾上腺功能不全患者在接受糖皮质激素替代治疗后完全康复。
IF 0.9 Q3 Medicine Pub Date : 2023-12-13 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0112
Hendra Zufry, Putri Oktaviani Zulfa, Rosdiana Rosdiana, Krishna Wardhana Sucipto, Agustia Sukri Ekadamayanti, Sarah Firdausa

Summary: Symptoms of primary adrenal insufficiency (PAI) are commonly nonspecific, causing the disease to be misdiagnosed or often delayed, and patients may present to the hospital with a life-threatening crisis. Previous case reports have documented that patients in this condition often require lifelong glucocorticoid replacement therapy. This study aimed to present a noteworthy outcome of PAI caused by adrenal tuberculosis infection, demonstrating complete recovery after six months of glucocorticoid replacement therapy. A 38-year-old Indonesian man presented to the endocrinology clinic in a tertiary hospital with a chief complaint of epigastric pain. The patient experienced nausea, vomiting, loss of consciousness, weight loss, excessive sweat, decreased appetite, weakness, and dizziness in the past 2 weeks. Laboratory examinations revealed hyponatremia, elevated adrenocorticotropic hormone, and suppressed morning plasma cortisol level. A non-contrast-enhanced abdominal MRI showed unilateral right-side adrenal enlargement and calcification. The patient's Mantoux test was positive. Corticosteroids and anti-tuberculosis therapy were administered. After 6 months, hydrocortisone was discontinued due to the patient's good clinical condition and normal morning plasma cortisol levels. After a 1-year follow-up, the patient remained asymptomatic with normal cortisol levels. We hypothesized several reasons for this unique outcome: (i) the patient was relatively young compared to previous cases, suggesting an adequate immune system may play a role; (ii) despite a 1-month delay in diagnosis and treatment, the absence of skin hyperpigmentation suggested an acute presentation, potentially contributing to the favorable outcome; and (iii) the absence of comorbidities potentially positively impacted the patient's outcome.

Learning points: Symptoms of adrenal insufficiency are often nonspecific and may only become apparent once significant damage has occurred to the adrenal gland. Clinical adjustments and a comprehensive understanding of epidemiological knowledge are necessary for diagnosing patients with endocrine diseases in limited-resource settings. Complete recovery in primary adrenal insufficiency caused by tuberculosis infection might be due to younger age, acute presentation, and absence of comorbidities.

摘要:原发性肾上腺功能不全(PAI)的症状通常没有特异性,导致疾病被误诊或经常被延误,患者可能会因危及生命的危机而入院。以往的病例报告显示,该病患者往往需要终生接受糖皮质激素替代治疗。本研究旨在介绍肾上腺结核感染引起的 PAI 的一个值得注意的结果,即经过 6 个月的糖皮质激素替代治疗后完全康复。一名 38 岁的印度尼西亚男子以上腹疼痛为主诉到一家三甲医院内分泌科就诊。患者在过去两周内出现恶心、呕吐、意识丧失、体重减轻、多汗、食欲下降、虚弱和头晕等症状。实验室检查显示患者出现低钠血症、促肾上腺皮质激素升高、晨起血浆皮质醇水平降低。非造影剂增强腹部磁共振成像显示单侧右侧肾上腺肿大和钙化。患者的曼氏试验呈阳性。患者接受了皮质类固醇和抗结核治疗。6 个月后,由于患者临床状况良好,早晨血浆皮质醇水平正常,因此停用了氢化可的松。经过 1 年的随访,患者仍无症状,皮质醇水平正常。我们推测这一独特结果的几个原因:(i) 与之前的病例相比,该患者相对年轻,这表明充足的免疫系统可能发挥了作用;(ii) 尽管诊断和治疗延迟了 1 个月,但没有皮肤色素沉着表明患者是急性发病,这可能有助于患者获得良好的治疗结果;(iii) 没有合并症可能对患者的治疗结果产生积极影响:学习要点:肾上腺功能不全的症状通常没有特异性,只有在肾上腺受到严重损害后才会显现。在资源有限的情况下,诊断内分泌疾病患者需要进行临床调整并全面了解流行病学知识。结核感染引起的原发性肾上腺功能不全之所以能完全康复,可能与患者年龄较小、发病急、无合并症有关。
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引用次数: 0
A low-carbohydrate diet in place of SGLT2i therapy in a patient with diabetic cardiomyopathy. 糖尿病心肌病患者用低碳水化合物饮食代替 SGLT2i 治疗。
IF 0.9 Q3 Medicine Pub Date : 2023-12-13 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0086
Sabine Kleissl-Muir, Bodil Rasmussen, Alice Owen, Caryn Zinn, Andrea Driscoll

Summary: In patients with diabetes mellitus, the toxic milieu caused by abnormal glucose and free fatty acid handling can lead to heart failure (HF). Referred to as diabetic cardiomyopathy (DMCM), this syndrome often exists in the absence of conventional risk factors for HF such as history of myocardial infarction or hypertension. Low-carbohydrate diets (LCDs) have recently been endorsed as an efficacious therapeutic dietary approach to prevent and reverse cardiometabolic disease including type 2 diabetes mellitus (T2DM). LCDs improve systemic insulin resistance (IR), reverses cardiac remodelling in a rodent model and downregulates the expression of sodium-glucose co-transporter 2 (SGLT2) receptors in the kidney. It is therefore conceivable that a lifestyle approach such as adopting an LCD can be offered to patients with DMCM. The reported case is that of a 45-year-old man with a 15-year history of non-ischaemic cardiomyopathy, T2DM and obesity. The patient volunteered to engage in a 16-week low-carbohydrate dietary intervention trial and then self-selected to remain on this diet for 1 year. The whole-food LCD was based on simple 'traffic light' style food lists and not designed to restrict calories, protein, fat or salt. After 1 year, the patient had lost 39 kg and his cardiometabolic markers had significantly improved. LCDs present a potentially beneficial approach for patients with DMCM and could be considered as a lifestyle intervention before SGLT2i therapy is commenced.

Learning points: Diabetic cardiomyopathy (DMCM) is a syndrome precipitated mainly by the detrimental effects of glucose metabolism disorders such as insulin resistance and diabetes. Low-carbohydrate diets (LCD) mimic many effects of sodium-glucose co-transporter 2 inhibitors (SGLT2i). LCDs are a dietary pattern which can have significant and beneficial effects on metabolic and anthropometric markers in patients with DMCM. LCDs and SGLT2i therapy could be combined and may achieve better clinical outcomes for patients with DMCM. Combination therapy may be carried out under close supervision as the real risk for diabetic ketoacidosis remains.

摘要:在糖尿病患者中,葡萄糖和游离脂肪酸处理异常引起的毒性环境可导致心力衰竭(HF)。这种综合征被称为糖尿病心肌病(DMCM),通常没有心肌梗死或高血压等心衰的传统危险因素。低碳水化合物饮食(LCD)最近被认为是预防和逆转包括 2 型糖尿病(T2DM)在内的心血管代谢疾病的有效饮食治疗方法。低碳水化合物饮食可改善全身胰岛素抵抗(IR),逆转啮齿动物模型的心脏重塑,并下调肾脏中钠-葡萄糖协同转运体 2(SGLT2)受体的表达。因此,可以设想为 DMCM 患者提供一种生活方式,如采用 LCD。报告中的病例是一名 45 岁的男性,有 15 年的非缺血性心肌病、T2DM 和肥胖病史。该患者自愿参加了为期 16 周的低碳水化合物饮食干预试验,然后自主选择在 1 年内保持这种饮食习惯。全食物液晶显示屏基于简单的 "红绿灯 "式食物清单,不限制热量、蛋白质、脂肪或盐。1 年后,患者体重减轻了 39 公斤,心脏代谢指标也明显改善。LCD为DMCM患者提供了一种潜在的有益方法,在开始SGLT2i治疗前,可考虑将其作为一种生活方式干预措施:糖尿病心肌病(DMCM)是一种主要由胰岛素抵抗和糖尿病等糖代谢紊乱的有害影响引起的综合征。低碳水化合物饮食(LCD)可模拟钠-葡萄糖协同转运体 2 抑制剂(SGLT2i)的多种作用。低碳水化合物饮食是一种饮食模式,对 DMCM 患者的代谢和人体测量指标有显著的有益影响。可将 LCDs 和 SGLT2i疗法结合起来,为 DMCM 患者带来更好的临床疗效。由于糖尿病酮症酸中毒的实际风险仍然存在,因此应在密切监督下进行联合治疗。
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引用次数: 0
Calciphylaxis in a patient with hypoparathyroidism and MEN-1 syndrome. 一名甲状旁腺功能减退症和MEN-1综合征患者的钙化病。
IF 0.9 Q3 Medicine Pub Date : 2023-12-08 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0009
Isabelle van Heeswijk, Antonia Ugur, Lynsey Havill, Rebecca Kinton, David Hughes

Summary: Calciphylaxis is a rare disorder characterised by the development of painful necrotic skin lesions. Occlusion of cutaneous arterioles due to ectopic calcification leads to potentially life-threatening widespread skin loss. Most cases occur in patients with chronic renal disease, which leads to dysregulation of calcium and phosphate homeostasis. Only a handful of case reports exist describing calciphylaxis occurring in patients without chronic renal disease but with hypoparathyroidism. We report on a unique case of a 53-year-old man with multiple endocrine neoplasia type 1 syndrome and acquired hypoparathyroidism due to total parathyroidectomy who went on to develop calciphylaxis following cardiac surgery.

Learning points: Calciphylaxis most commonly occurs in the context of chronic renal disease but can rarely occur in its absence as a consequence of calcium and phosphate dysregulation. Patients who develop necrotic skin lesions in the presence of hypoparathyroidism require an urgent dermatological opinion. Mortality from calciphylaxis is high, with the majority of deaths occurring secondary to sepsis. Management of calciphylaxis requires a multidisciplinary team approach to manage wound healing, infections and pain. Recovery with full rehabilitation from calciphylaxis can take months to years.

摘要:钙化症是一种罕见的疾病,其特征是出现疼痛性皮肤坏死病变。异位钙化造成皮肤动脉血管闭塞,导致大面积皮肤脱落,可能危及生命。大多数病例发生在慢性肾病患者身上,慢性肾病会导致钙磷平衡失调。仅有少数病例报告描述了发生在无慢性肾病但患有甲状旁腺功能减退症的患者身上的钙化病。我们报告了一例独特的病例,一名53岁的男性患者患有多发性内分泌肿瘤1型综合征,并因甲状旁腺全切除术而导致获得性甲状旁腺功能减退,在心脏手术后又出现了钙磷代谢紊乱:学习要点:钙营养障碍最常见于慢性肾脏疾病,但也有极少数患者在没有慢性肾脏疾病的情况下也会因钙磷失调而发生钙营养障碍。甲状旁腺功能减退症患者出现皮肤坏死病变时,应立即到皮肤科就诊。钙磷中毒的死亡率很高,大多数死亡病例都是继发于败血症。钙铁病的治疗需要多学科团队合作,以控制伤口愈合、感染和疼痛。钙化性皮炎的完全康复可能需要数月至数年的时间。
{"title":"Calciphylaxis in a patient with hypoparathyroidism and MEN-1 syndrome.","authors":"Isabelle van Heeswijk, Antonia Ugur, Lynsey Havill, Rebecca Kinton, David Hughes","doi":"10.1530/EDM-23-0009","DOIUrl":"10.1530/EDM-23-0009","url":null,"abstract":"<p><strong>Summary: </strong>Calciphylaxis is a rare disorder characterised by the development of painful necrotic skin lesions. Occlusion of cutaneous arterioles due to ectopic calcification leads to potentially life-threatening widespread skin loss. Most cases occur in patients with chronic renal disease, which leads to dysregulation of calcium and phosphate homeostasis. Only a handful of case reports exist describing calciphylaxis occurring in patients without chronic renal disease but with hypoparathyroidism. We report on a unique case of a 53-year-old man with multiple endocrine neoplasia type 1 syndrome and acquired hypoparathyroidism due to total parathyroidectomy who went on to develop calciphylaxis following cardiac surgery.</p><p><strong>Learning points: </strong>Calciphylaxis most commonly occurs in the context of chronic renal disease but can rarely occur in its absence as a consequence of calcium and phosphate dysregulation. Patients who develop necrotic skin lesions in the presence of hypoparathyroidism require an urgent dermatological opinion. Mortality from calciphylaxis is high, with the majority of deaths occurring secondary to sepsis. Management of calciphylaxis requires a multidisciplinary team approach to manage wound healing, infections and pain. Recovery with full rehabilitation from calciphylaxis can take months to years.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10762544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parathyroid adenoma apoplexy mimicking a thyroid bleeding cyst: a seemingly innocent condition that can be life-threatening. 模仿甲状腺出血性囊肿的甲状旁腺腺瘤栓塞:一种看似无辜却可能危及生命的疾病。
IF 0.9 Q3 Medicine Pub Date : 2023-12-08 Print Date: 2023-10-01 DOI: 10.1530/EDM-22-0385
Jasmine Van de Kerkhof, Jacqueline Bijnens, Frank De Geeter, Catherine Dick, Pascale De Paepe, Annick Van den Bruel

Summary: Primary hyperparathyroidism most commonly presents with hypercalcaemia. Rarely, parathyroid apoplexy or haemorrhage mimicking a thyroid bleeding cyst is the first presentation of a parathyroid adenoma. A woman presented with a sudden-onset painful 'goitre'. Ultrasound showed a cystic nodule located posterior to rather than in the right thyroid lobe, suggesting parathyroid adenoma bleeding. Biochemistry showed mild primary hyperparathyroidism. 99mTc-pertechnetate/sestamibi showed no uptake in the nodule, which was interpreted as a cold thyroid nodule. 18F-fluorocholine PET/CT showed uptake in the nodule, suggestive of a parathyroid adenoma. Persistent mild primary hyperparathyroidism complicated by nephrolithiasis and osteopenia favoured parathyroidectomy over a wait-and-see approach. The patient was referred for parathyroidectomy along with right thyroid lobectomy. Pathology showed an adenoma, with an eccentrically located cystic structure filled with red blood cells surrounded by a thickened fibrous capsule. In conclusion, cervical pain/haemorrhage with hypercalcaemia points to the diagnosis of parathyroid apoplexy, mimicking a thyroid bleeding cyst. Workup with ultrasound and, if available, 18F-choline PET/CT allows for timely surgery, minimizing the risk of recurrent and severe bleeding.

Learning points: A bleeding cyst may be located posterior to rather than in the thyroid, suggesting a parathyroid haemorrhage. Neck pain and/or haemorrhage along with primary hyperparathyroidism point to parathyroid apoplexy. A two-step presentation has been described, with a first phase of local symptoms to be followed by visible and possibly life-threatening compressing bleeding. Therefore, an expedited workup is needed, allowing for timely surgery.

摘要:原发性甲状旁腺功能亢进症最常见的表现是高钙血症。甲状旁腺腺瘤的首发症状是甲状旁腺功能亢进或甲状腺出血囊肿出血,这种情况较为罕见。一名妇女突然出现疼痛性 "甲状腺肿"。超声波检查显示,位于右甲状腺叶后方的囊性结节提示甲状旁腺腺瘤出血。生化检查显示存在轻度原发性甲状旁腺功能亢进。99mTc-pertechnetate/sestamibi 在结节中没有摄取,被解释为冷甲状腺结节。18F-氟胆碱 PET/CT 显示结节内有摄取,提示为甲状旁腺腺瘤。持续的轻度原发性甲状旁腺功能亢进并发肾结石和骨质疏松,甲状旁腺切除术比静观其变更有优势。患者在接受甲状旁腺切除术的同时,还接受了右侧甲状腺叶切除术。病理结果显示这是一个腺瘤,偏心的囊性结构内充满了红细胞,周围有增厚的纤维囊。总之,颈部疼痛/出血伴有高钙血症,可诊断为甲状旁腺功能亢进,并可模拟甲状腺出血性囊肿。通过超声检查和18F-胆碱PET/CT(如果有的话)检查,可以及时进行手术,将复发和严重出血的风险降至最低:学习要点:出血囊肿可能位于甲状腺后方而非甲状腺内,提示甲状旁腺出血。颈部疼痛和/或出血同时伴有原发性甲状旁腺功能亢进,则提示甲状旁腺机能亢进。据描述,该病的表现分为两个阶段,第一阶段为局部症状,随后会出现明显的压迫性出血,并可能危及生命。因此,需要加快检查,以便及时进行手术。
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引用次数: 0
Calcaneus metastasis: a rare presentation of poorly differentiated thyroid cancer. 钙骨转移:分化不良甲状腺癌的罕见表现。
IF 0.9 Q3 Medicine Pub Date : 2023-12-01 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0103
Omayma Elshafie, Anjali Jain, Summit Bichpuria, Yamina Rassou, Syed Furqan Hashmi, Abir Bou Khalil

Summary: A 60-year-old woman presented to our clinic with an acute onset 3 months history of right ankle pain. The patient had a history of poorly differentiated thyroid cancer, which was treated with total thyroidectomy, left lateral neck dissection levels II-V and central neck dissection levels VI-VII followed by postoperative I-131 radioactive iodine (131I) ablation therapy 3.7 GBq 6 months ago. The post-131I WBS showed residual iodine-avid thyroid tissue with no other iodine-avid disease or metastasis. SPECT/CT of the neck and chest showed nonavid bilateral pulmonary nodules, discrete nodal masses in mediastinum and nonavid bone lesions. FDG-PET CT scan showed FDG-avid mediastinal lymph nodes (LN), innumerable non-FDG-avid subcentimetric pulmonary nodules and few FDG-avid lytic lesions in the skeleton. X-ray and MRI of the right ankle showed a well-marginated lytic lesion in the posterior body of calcaneus and 5 × 6 cm soft tissue mass lesion, respectively. The histopathology of the calcaneus mass confirmed a positive immunostaining for thyroid origin which includes thyroglobulin and TTF-1 with PAX-8. Endobronchial mediastinal and bronchial LN biopsy confirmed thyroid cancer metastasis. Gene mutation showed HRAS and GNA13 with a high tumor mutational burden. We describe a rare case of poorly differentiated thyroid cancer in a patient who presented with right ankle pain; we confirmed the cause to be a calcaneus metastasis from the thyroid cancer, with calcaneus being an extremely rare site for bone metastases. Gene mutations points toward treatment with immune checkpoint inhibitors.

Learning points: Poorly differentiated thyroid carcinoma (PDTC) usually metastasizes to lung and bone but can rarely occur in the calcaneus. Patients with distant metastases have significantly worse long-term prognosis. Radiotherapy is effective in reducing the metastatic pains as well as reducing the size of the metastasis. PAX-8 staining can be used to differentiate thyroid carcinomas from lung adenocarcinomas. The importance of searching for gene mutations to decide the treatment of PDTC.

摘要:一名 60 岁的女性因急性右脚踝疼痛 3 个月来我院就诊。患者曾患分化较差的甲状腺癌,6个月前接受了甲状腺全切除术、颈部左外侧Ⅱ-Ⅴ级切除术和颈部中央Ⅵ-Ⅶ级切除术,术后进行了3.7 GBq的I-131放射性碘(131I)消融治疗。131I术后WBS显示甲状腺组织残留碘嗜性,无其他碘嗜性疾病或转移。颈部和胸部的SPECT/CT显示双侧肺部无结节,纵隔内有不连续的结节性肿块,骨部无病变。FDG-PET CT 扫描显示,纵隔淋巴结(LN)为 FDG-avid,肺部有无数非 FDG-avid、近心形结节,骨骼有少量 FDG-avid、淋巴结病变。右脚踝的 X 光片和磁共振成像分别显示,小腿骨后侧有一个边缘清晰的淋巴结病变和 5 × 6 厘米的软组织肿块病变。方骨肿块的组织病理学检查证实,甲状腺源性免疫染色阳性,包括甲状腺球蛋白、TTF-1和PAX-8。支气管内纵隔和支气管LN活检证实了甲状腺癌转移。基因突变显示HRAS和GNA13具有高肿瘤突变负荷。我们描述了一例罕见的分化较差的甲状腺癌患者,患者表现为右脚踝疼痛;我们证实病因是甲状腺癌的小腿骨转移,而小腿骨是极为罕见的骨转移部位。基因突变指向免疫检查点抑制剂的治疗:学习要点:分化不良的甲状腺癌(PDTC)通常会转移到肺部和骨骼,但很少发生在小腿根部。远处转移患者的长期预后明显较差。放疗能有效减轻转移疼痛并缩小转移灶。PAX-8染色可用于区分甲状腺癌和肺腺癌。寻找基因突变对决定PDTC治疗方法的重要性
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引用次数: 0
Hypertriglyceridemia and its impact on mitotane monitoring in adrenocortical carcinoma. 高甘油三酯血症及其对肾上腺皮质癌患者米托坦监测的影响。
IF 0.9 Q3 Medicine Pub Date : 2023-12-01 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0014
Sandra Martens, Bruno Lapauw

Summary: Mitotane is used for treatment of advanced adrenocortical carcinoma. It is administered when the carcinoma is unresectable, metastasized, or at high-risk of recurrence after resection. In addition, mitotane is considered to have direct adrenolytic effects. Because of its narrow therapeutic-toxic range, therapeutic drug monitoring (TDM) is warranted. In 2020, a left-sided adrenal gland tumor was found (5.8 cm) in a 38-year-old man. Considering the size of this lesion and inability to exclude an adrenocortical carcinoma on imaging, a laparoscopic adrenalectomy was performed. Histopathologic examination determined presence of an adrenocortical carcinoma (pT2N0M0 ENSAT stadium II; ki67 10-15%). There was no evidence for residual or metastatic disease but given the high risk of recurrence, adjuvant therapy with mitotane was initiated. During TDM, a sudden and spuriously high level of mitotane was observed but without signs or symptoms of toxicity. After exploration, it was found that this high concentration was completely due to uncontrolled hypertriglyceridemia. After correction thereof, mitotane levels were again in the therapeutic range. This observation underscores the importance of TDM sampling in a fasting state with concurrent control of prevalent or incident dyslipidemia.

Learning points: TDM of mitotane is advocated to achieve therapeutic levels while avoiding toxicity. For correct TDM, sampling should be done at least 12 h after last intake of mitotane. Although sampling in fasting conditions in not explicitly mentioned in the guidelines, fasting state should be considered as elevated serum triglyceride levels might cause spuriously high mitotane levels. In patients undergoing treatment with mitotane and presenting with too high or unexplained fluctuating mitotane levels without signs or symptoms of toxicity, hypertriglyceridemia as a possible cause should be investigated. If dyslipidemia occurs in patients under mitotane treatment, other causes than mitotane (e.g. alcohol abuse and diabetes) should be considered and appropriate treatment should be initiated.

摘要:米托坦用于晚期肾上腺皮质癌的治疗。当肿瘤无法切除、转移或切除后有复发的高风险时使用。此外,米托坦被认为有直接的肾上腺溶解作用。由于其狭窄的治疗毒性范围,治疗药物监测(TDM)是必要的。2020年,一名38岁男性发现左侧肾上腺肿瘤(5.8 cm)。考虑到该病变的大小和影像学上无法排除肾上腺皮质癌,我们进行了腹腔镜肾上腺切除术。组织病理学检查确定存在肾上腺皮质癌(pT2N0M0;ki67 10 - 15%)。没有残留或转移性疾病的证据,但考虑到复发的高风险,开始使用米托坦辅助治疗。在TDM期间,观察到突然和假高水平的米托坦,但没有毒性的体征或症状。经探索发现,这种高浓度完全是由于高甘油三酯血症失控所致。修正后,米托坦水平再次在治疗范围内。这一观察结果强调了在空腹状态下进行TDM采样的重要性,同时控制流行或偶发的血脂异常。学习要点:提倡米托坦的TDM达到治疗水平,同时避免毒性。对于正确的TDM,采样应在最后一次摄入米托坦后至少12小时进行。虽然指南中没有明确提到空腹条件下的采样,但空腹状态应考虑血清甘油三酯水平升高可能导致米托坦水平过高。在接受米托坦治疗的患者中,出现米托坦水平过高或不明原因的波动,且无毒性体征或症状,应调查高甘油三酯血症是否可能是原因。如果接受米托坦治疗的患者出现血脂异常,应考虑米托坦以外的其他原因(如酒精滥用和糖尿病),并应开始适当的治疗。
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引用次数: 0
A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis. Bardet-Biedl综合征的诊断难题:基因诊断先于临床诊断。
IF 0.9 Q3 Medicine Pub Date : 2023-11-24 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0055
Nele Van Roy, Sylvester Heerwegh, Dashty Husein, Joke Ruys, Peter Coremans

Summary: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, multisystem non-motile ciliopathy of progressive onset. It is primarily characterised by rod-cone dystrophy, early-onset obesity and related complications, postaxial polydactyly, renal and genitourinary abnormalities, learning disabilities, and hypogonadism. The diagnosis is based on Beales' modified diagnostic criteria. We present a case of two monozygotic female twins, 17 years of age at presentation, referred for obesity since childhood. The initial hormonal work-up was negative and no dysmorphic features were noted. They were diagnosed with exogenous obesity. However, after ophthalmologic problems became apparent, rod-cone dystrophy was observed and genetic testing was performed. A mutation in the BBS2 gene led to the diagnosis of BBS, although the full diagnostic criteria were not met. This case not only highlights the need to raise awareness for BBS but also exposes two limitations of the current diagnostic standard. The first limitation is the low sensitivity of the clinical diagnostic model, due to the progressive onset and the high variability of the syndrome. The second limitation is the unclear role of genetic testing. As genetic testing becomes more widely available, genetic diagnosis preceding clinical diagnosis will become more common, leading to a diagnostic conundrum. We propose an update of the diagnostic model. A less strict application in the presence of confirmed genetic mutations should be applied, as this could facilitate earlier diagnosis and intervention. This is important because therapeutic agents are being developed that could have a significant impact on quality of life and prognosis.

Learning points: Due to the low prevalence, the significant inter-and intrafamilial variation, and the slowly evolving phenotype, monogenic forms of obesity such as Bardet-Biedl syndrome are difficult to diagnose. Despite advances in the understanding of the presentation, pathophysiology and access to accurate genetic characterisation, a substantial number of diagnoses are still made by ophthalmology, as recognition of BBS in other departments of medicine, remains limited. Clinical diagnosis of BBS is based on Beales' modified diagnostic criteria which require the presence of four primary features or three primary features plus two secondary features. This model has its limitations. Due to the progressive onset of clinical symptoms, patients generally do not meet the diagnostic criteria early in life, leading to a delay in diagnosis. In addition, the role of genetic testing remains controversial. However, as it becomes more widely available, genetic diagnosis may precede a full clinical diagnosis. BBS has an impact on the quality of life and prognosis of both the patient and the family. Obesity management strategies are an important part of the multidisciplinary approach, as there is no cure available. Setmelanotide has shown pr

摘要:Bardet-Biedl综合征(BBS)是一种罕见的常染色体隐性多系统进行性纤毛病。其主要特征为杆状锥体营养不良、早发性肥胖及相关并发症、轴后多指畸形、肾脏和泌尿生殖系统异常、学习障碍和性腺功能减退。诊断是基于Beales修改的诊断标准。我们提出的情况下,两个同卵女性双胞胎,17岁的表现,提到肥胖自童年。最初的激素检查为阴性,未发现畸形特征。他们被诊断为外源性肥胖。然而,在眼科问题变得明显后,观察到杆状锥体营养不良并进行基因检测。BBS2基因的突变导致了BBS的诊断,尽管没有达到完全的诊断标准。该病例不仅突出了提高对BBS认识的必要性,而且暴露了当前诊断标准的两个局限性。第一个限制是临床诊断模型的低敏感性,由于进行性发病和综合征的高变异性。第二个限制是基因检测的作用不明确。随着基因检测变得越来越广泛,在临床诊断之前进行基因诊断将变得更加普遍,从而导致诊断难题。我们建议更新诊断模型。对于已确认的基因突变,应采用不那么严格的应用,因为这可以促进早期诊断和干预。这一点很重要,因为正在开发的治疗药物可能对生活质量和预后产生重大影响。学习要点:由于患病率低,家族间和家族内差异显著,表型进化缓慢,单基因形式的肥胖,如Bardet-Biedl综合征,很难诊断。尽管对其表现、病理生理学和准确的遗传特征的理解有所进步,但由于其他医学部门对BBS的认识仍然有限,因此仍有大量的诊断是由眼科做出的。BBS的临床诊断基于Beales修订的诊断标准,该标准要求存在四个主要特征或三个主要特征加上两个次要特征。这种模式有其局限性。由于临床症状的进行性发作,患者通常在生命早期不符合诊断标准,导致诊断延误。此外,基因检测的作用仍然存在争议。然而,随着它变得越来越广泛,基因诊断可能先于全面的临床诊断。BBS对患者和家属的生活质量和预后都有影响。肥胖管理策略是多学科方法的重要组成部分,因为目前尚无治愈方法。Setmelanotide在三期试验中显示出令人鼓舞的结果,但其在临床实践中的效果尚未得到证实。
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引用次数: 0
A case of catamenial erythema multiforme major successfully treated with goserelin. 戈舍林治疗多形性大羊膜红斑1例。
IF 0.9 Q3 Medicine Pub Date : 2023-11-23 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0030
Lauren T Tyack, Bronwyn G A Stuckey, John P Walsh

Summary: We report a case of catamenial erythema multiforme major in a 46-year-old female. She was treated successfully with goserelin, a GnRH agonist, until the expected age of menopause; however, its therapeutic effects persisted for longer than expected, possibly due to accumulation in adipose tissue.

Learning points: A group of menstrual cycle-related dermatoses and hypersensitivity syndromes exist but are rarely reported in the literature. A history of recurrent cutaneous eruptions in premenopausal females should be considered in the context of the menstrual cycle. The diagnosis of menstrual cycle-related dermatoses is largely clinical, although provocation testing can assist. Treatment options are broad and are aimed at reducing the immune response and/or suppressing ovulation. Goserelin may accumulate and have a gonadotrophin-suppressing effect for longer than expected.

摘要:我们报告一位46岁女性的多形性大羊膜红斑。她成功地接受了戈舍瑞林(一种GnRH激动剂)的治疗,直到预期的绝经年龄;然而,它的治疗效果持续的时间比预期的要长,可能是由于在脂肪组织中的积累。学习要点:一组与月经周期相关的皮肤病和过敏综合征存在,但在文献中很少报道。绝经前女性皮肤复发的历史应考虑到月经周期。月经周期相关皮肤病的诊断主要是临床诊断,尽管激发试验可以提供帮助。治疗选择很广泛,旨在降低免疫反应和/或抑制排卵。戈舍瑞林可能积累并具有比预期更长时间的促性腺激素抑制作用。
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引用次数: 0
Segmental low-density area on contrast-enhanced CT is a possible clue to diagnosing branch artery fibromuscular dysplasia. 增强CT上的节段性低密度区是诊断支动脉纤维肌肉发育不良的可能线索。
IF 0.9 Q3 Medicine Pub Date : 2023-11-23 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0054
Yuko Kiyohara, Rei Hirose, Hiroshi Kawamata, Kazuki Nakai, Akane Hirataka, Jun Saito, Yuya Tsurutani

Summary: Fibromuscular dysplasia can cause renovascular hypertension. Since fibromuscular dysplasia may be underdiagnosed, precise diagnosis and management are crucial, especially for young women. A 20-year-old woman with hypertension and hypokalemia was referred to our hospital for further evaluation of secondary hypertension. At the previous hospital, her blood pressure was 160/110 mmHg and the serum potassium level was 2.9 mEq/L. The equilibrium phase on contrast-enhanced computed tomography revealed a low-density area in the upper median portion of the right kidney. On admission to our hospital, her blood pressure was 141/96 mmHg under 5 mg of amlodipine. Laboratory tests revealed plasma renin activity of 11.3 ng/mL/h and plasma aldosterone concentration of 117.1 pg/mL. Renal venous sampling of active renin concentration showed a right-to-left renin ratio of 3.13, confirming a significant increase in renin secretion from the right kidney. Selective reno-angiography detected focal stenosis with adjacent aneurysmal dilation and tortuosity in the proximal branch of the right renal artery. She was diagnosed with branch artery fibromuscular dysplasia and successfully treated with percutaneous transluminal angioplasty. After the treatment, she was free from hypertension and hypokalemia without any medications. Since branch artery fibromuscular dysplasia is sometimes difficult to diagnose, contrast-enhanced computed tomography can be a promising diagnostic tool as shown in this case. Concerning treatment, our patient was treated with percutaneous transluminal angioplasty, which should be considered for women of reproductive age because recommended antihypertensive medications can be teratogenic even in the first trimester of pregnancy.

Learning points: Although branch artery fibromuscular dysplasia (FMD) is sometimes difficult to diagnose, it should be considered in patients with high-renin, high-aldosterone hypertension. Branch artery FMD can present with a low-density area of the kidney on contrast-enhanced computed tomography, as shown in this case. Percutaneous transluminal angioplasty (PTA) can be an appropriate treatment for branch artery FMD, especially in young female patients. PTA may immediately improve hypertension and hypokalemia without the need for medications.

摘要:纤维肌肉发育不良可引起肾血管性高血压。由于纤维肌肉发育不良可能未被充分诊断,因此精确的诊断和治疗至关重要,特别是对年轻女性。一位20岁的女性高血压和低钾血症被转介到我们医院进一步评估继发性高血压。在原医院,她的血压为160/110 mmHg,血清钾水平为2.9 mEq/L。对比增强计算机断层扫描的平衡期显示右肾中上部有一个低密度区。入院时,患者在5 mg氨氯地平治疗下血压为141/96 mmHg。实验室检测显示血浆肾素活性11.3 ng/mL/h,血浆醛固酮浓度117.1 pg/mL。肾静脉活性肾素浓度采样显示右肾素与左肾素之比为3.13,证实右肾肾素分泌明显增加。选择性肾血管造影发现局灶性狭窄伴右侧肾动脉近支邻近动脉瘤扩张和扭曲。她被诊断为分支动脉纤维肌肉发育不良,并通过经皮腔内血管成形术成功治疗。经治疗,患者无高血压、低血钾症状,无需任何药物治疗。由于支动脉纤维肌肉发育不良有时难以诊断,对比增强计算机断层扫描是一种很有前途的诊断工具,正如本病例所示。在治疗方面,我们的患者接受了经皮腔内血管成形术治疗,这对于育龄妇女来说是应该考虑的,因为推荐的抗高血压药物即使在怀孕的前三个月也可能是致畸的。学习要点:虽然分支动脉纤维肌肉发育不良(FMD)有时难以诊断,但在高肾素、高醛固酮高血压患者中应予以考虑。支动脉FMD在增强ct上表现为肾低密度区,如图所示。经皮腔内血管成形术(PTA)是分支动脉FMD的合适治疗方法,尤其是年轻女性患者。PTA可立即改善高血压和低钾血症,无需药物治疗。
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引用次数: 0
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Endocrinology, Diabetes and Metabolism Case Reports
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