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Complete remission after glucocorticoid therapy in a patient with primary hypophysitis. 一名原发性肾上腺皮质功能减退症患者在接受糖皮质激素治疗后病情完全缓解。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-07 Print Date: 2024-10-01 DOI: 10.1530/EDM-23-0125
Aysa Hacioglu, Gazanfer Ekinci, Zuleyha Karaca, Uğur Türe, Fahrettin Kelestimur

Summary: Primary hypophysitis is a rare disease that may have variable clinical presentations. The main treatment options are clinical observation, immunosuppressive drugs, and surgery. Glucocorticoids are used as first-line medical therapy; however, non-responsiveness and recurrences are the major problems. We present a 30-year-old male patient who had an excellent radiologic response to a single course of glucocorticoids. The patient presented with malaise and severe headaches of acute onset. Cranial MRI revealed a pituitary mass compressing the optic chiasm. Hormonal evaluation studies were consistent with anterior pituitary hormone dysfunction except for the growth hormone axis. There was a mild compression on the optic chiasm in the pituitary MRI. The patient was started on methylprednisolone therapy at a dose of 80 mg/day. The pituitary MRI revealed complete regression of the mass after 2 months, and there was a complete recovery of pituitary functions after 6 months. There is no consensus on the optimal dose and duration of glucocorticoid therapy for primary hypophysitis in the literature. We report that steroid therapy, even in lower doses, might be effective in mild-to-moderate cases.

Learning points: Primary hypophysitis is a rare disease with a varied clinical course, and hence the treatment strategies should be individualized. There is no consensus on the optimal dose and duration of glucocorticoid therapy. Glucocorticoid therapy may induce complete remission in some patients, especially with a mild-to-moderate disease course and during the acute phase of the disease.

摘要:原发性肾上腺皮质功能减退症是一种罕见疾病,临床表现多种多样。主要治疗方法是临床观察、免疫抑制剂和手术。糖皮质激素被用作一线药物治疗,但无应答和复发是主要问题。我们为大家介绍一位 30 岁的男性患者,他对糖皮质激素的单疗程治疗产生了良好的放射学反应。患者表现为乏力和急性发作的剧烈头痛。头颅磁共振成像显示垂体肿块压迫视丘。激素评估研究显示,除生长激素轴外,垂体前叶激素功能障碍。垂体磁共振成像显示视丘受到轻度压迫。患者开始接受甲基强的松龙治疗,剂量为 80 毫克/天。2 个月后,垂体磁共振成像显示肿块完全消退,6 个月后垂体功能完全恢复。关于糖皮质激素治疗原发性肾上腺皮质功能减退症的最佳剂量和疗程,文献中尚未达成共识。我们报告说,即使剂量较小,类固醇治疗对轻中度病例也可能有效:学习要点:原发性肾上腺皮质功能减退症是一种罕见疾病,临床病程多变,因此治疗策略应个体化。关于糖皮质激素治疗的最佳剂量和持续时间,目前还没有达成共识。糖皮质激素治疗可使部分患者病情完全缓解,尤其是轻中度病程和急性期患者。
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引用次数: 0
Hyperthyroidism in thyroid carcinoma originating in struma ovarii. 起源于卵巢肿的甲状腺癌的甲状腺功能亢进症。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-03 Print Date: 2024-10-01 DOI: 10.1530/EDM-24-0082
Juliana Bezerra Mesquita, Rosa Paula M Biscolla

Summary: Thyroid carcinoma originating in Struma Ovarii (SO) is a rare thyroid ectopic cancer that accounts for 0.01% of all ovarian malignancies and is associated with hyperthyroidism in less than 15% of cases. In a 44-year-old patient with pelvic pain, the CT scan revealed a solid-cystic formation in the ovarium. A left oophorectomy was performed and showed a borderline serous tumor and papillary thyroid carcinoma ('thyroid carcinoma originating in Struma Ovarii') measuring 10 cm. Thyroid function was assessed, and hyperthyroidism was diagnosed. Surgical complementation and a pelvic re-approach were performed. The histological findings showed a papillary thyroid carcinoma in the uterine serosa and the right adnexa. Thyroid function was re-evaluated, and despite normal thyroid function, the TRAb test remained positive. The patient underwent total thyroidectomy and radioiodine therapy (RIT), after which the TRAb test became negative. During 3 years of follow-up, no evidence of tumor was observed. In our case of thyroid carcinoma originating in SO, hyperthyroidism was treated with ovarian surgery, total thyroidectomy, and RIT. It is worth noting that thyroid function was normalized after ovarian surgery, but the TRAb test only became negative after total thyroidectomy. We hope to draw attention to the importance of evaluating thyroid function in patients with SO and treating high-risk SO patients with RIT after total thyroidectomy to achieve disease remission.

Learning points: Struma ovarii can cause hyperthyroidism. Thyroid carcinoma can originate in Struma Ovarii. Differentiated thyroid carcinoma and hyperthyroidism originating in Struma Ovarii are rare conditions.

摘要:起源于卵巢瘤(SO)的甲状腺癌是一种罕见的甲状腺异位癌,占所有卵巢恶性肿瘤的0.01%,与甲状腺功能亢进相关的病例不到15%。一名 44 岁的患者因盆腔疼痛而接受 CT 扫描,发现卵巢内有实性囊肿形成。患者接受了左侧卵巢切除术,术中发现了一个10厘米长的边界浆液性肿瘤和甲状腺乳头状癌("起源于卵巢瘤的甲状腺癌")。对甲状腺功能进行了评估,确诊为甲状腺功能亢进。手术进行了补充,并再次进入盆腔。组织学检查结果显示,子宫浆膜和右侧附件中存在甲状腺乳头状癌。重新评估了甲状腺功能,尽管甲状腺功能正常,但TRAb检测仍呈阳性。患者接受了甲状腺全切除术和放射性碘治疗(RIT),之后TRAb检测结果变为阴性。在3年的随访中,没有发现肿瘤的迹象。在我们的这例源于 SO 的甲状腺癌病例中,甲状腺功能亢进症患者接受了卵巢手术、甲状腺全切除术和 RIT 治疗。值得注意的是,卵巢手术后甲状腺功能恢复正常,但TRAb检测在全甲状腺切除术后才转为阴性。我们希望提请大家注意评估SO患者甲状腺功能的重要性,并在甲状腺全切除术后对高危SO患者进行RIT治疗,以达到疾病缓解的目的:卵巢瘤可导致甲状腺功能亢进。学习要点:卵圆膜可导致甲状腺功能亢进。源于卵圆滑膜的分化型甲状腺癌和甲状腺功能亢进症是罕见病症。
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引用次数: 0
A carefully planned resistance training program improves strength, fitness and depressive symptoms for a woman with type 2 diabetes. 精心策划的阻力训练计划可改善 2 型糖尿病女性患者的体力、健康状况和抑郁症状。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-03 Print Date: 2024-10-01 DOI: 10.1530/EDM-24-0091
Mario I Hernandez, Ansley B Devine, Joseph Ramsey, Emily Dow, Carol S Johnston

Summary: Depression in type 2 diabetes (T2D) is estimated at 50% vs 18% among US adults, and markers of inflammation, which are tightly linked to hyperglycemia, are 5- to 50-fold higher in adults with T2D. Although lifestyle modifications are recommended for managing diabetes, resistance training (RT) is not commonly considered. This case report examined the practicality of implementing a structured RT protocol in a highly sedentary woman with T2D and depressive symptomology and assessed changes in strength, fitness, depression, and inflammation. The 59-year-old participant (body mass index: 38.1 kg/m2) was diagnosed in 2015. She had hypertension and bronchial asthma, was highly sedentary, and was clinically depressed based on validated measures: The Center for Epidemiological Studies Depression (CES-D) questionnaire and the Profile of Mood States (POMS) questionnaire. She had quit smoking 6 months earlier. The estimated 1RM guided the exercise prescription that used progressive overload to improve strength and promote the accretion of lean body mass. All exercise sessions (~45 minutes duration; 3× weekly) were supervised by trained personnel. After 8 weeks, total strength improved 135%. Heart rate was reduced by 14%, and depression symptomology fell into normal ranges. Although RT improved strength, fitness, and depressive symptomology, RT did not improve HbA1c, HOMA-IR, or inflammation emphasizing the need for a comprehensive treatment strategy. Simple assessments can be performed to determine the fitness and mental health of individuals with T2D, and incorporating an exercise prescription to standard care to address these key health determinants will empower patients to actively engage in their health care.

Learning points: A progressive, individualized resistance training program is feasible and improves muscular strength, fitness level, and mental health in a high-risk individual with type 2 diabetes and multiple comorbidities. Flexibility with resistance training prescription to adapt to patient's needs and abilities contributes to exercise adherence and successful outcomes Physical activity assessment and exercise prescription should be a part of standard care for patients with diabetes.

摘要:据估计,在美国成年人中,2 型糖尿病(T2D)患者中抑郁症患者占 50%,而 2 型糖尿病患者中抑郁症患者占 18%,与高血糖密切相关的炎症指标在 2 型糖尿病患者中高出 5 到 50 倍。虽然建议改变生活方式来控制糖尿病,但阻力训练(RT)并不被普遍考虑。本病例报告研究了对一名患有 T2D 和抑郁症状的久坐妇女实施结构化 RT 方案的实用性,并评估了其在力量、体能、抑郁和炎症方面的变化。这位 59 岁的患者(体重指数:38.1 kg/m2)于 2015 年确诊。她患有高血压和支气管哮喘,久坐不动,根据有效的测量方法,她患有临床抑郁症:流行病学研究中心抑郁(CES-D)问卷和情绪状态档案(POMS)问卷显示她患有抑郁症。她已在 6 个月前戒烟。在估算的 1RM 指导下,运动处方采用了渐进超负荷的方法来提高力量并促进瘦体重的增加。所有锻炼课程(约 45 分钟;每周 3 次)均由训练有素的人员指导。8 周后,总力量提高了 135%。心率降低了 14%,抑郁症状也降至正常范围。虽然 RT 改善了力量、体能和抑郁症状,但 RT 并没有改善 HbA1c、HOMA-IR 或炎症,这强调了综合治疗策略的必要性。可以通过简单的评估来确定 T2D 患者的体能和心理健康状况,将运动处方纳入标准护理,以解决这些关键的健康决定因素,将使患者有能力积极参与其健康护理:学习要点:循序渐进的个性化阻力训练计划是可行的,它能改善患有 2 型糖尿病和多种并发症的高危人群的肌肉力量、体能水平和心理健康。根据患者的需求和能力灵活制定阻力训练处方,有助于坚持锻炼并取得成功。
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引用次数: 0
Atypical presentation of Cushing's disease with weight loss and hypokalemia. 库欣病的非典型表现,伴有体重减轻和低钾血症。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0011
Sarah Badawod, Barna De, David B Clarke, Syed Ali Imran

Summary: ACTH-secreting pituitary adenomas causing Cushing's disease (CD) typically present with weight gain, whereas weight loss and hypokalemia in endogenous Cushing's patients are suggestive of ectopic ACTH production. We report a case of CD presenting with atypical features of marked weight loss and hypokalemia. A 75-year-old female was admitted to the hospital with a history of profound weight loss, associated with uncontrolled hypertension, hyperglycemia, severe proximal muscle weakness, and hypokalemia. Subsequent investigations, including 24-h urinary free cortisol, 48-h low-dose dexamethasone suppression test, MRI of the sella, and bilateral inferior petrosal sinus sampling, confirmed CD without any evidence of ectopic ACTH production. She became eucortisolemic with medical therapy of ketoconazole and cabergoline, subsequently regained her weight, and became normokalemic. This case illustrates that patients with CD may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production.

Learning points: Patients with CD do not always present with classical clinical features and may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production. While most patients with CD typically lose weight after biochemical remission, some patients gain weight after the normalization of cortisol levels. This case highlights the need to entertain a broad differential in patients presenting with hypokalemia and weight loss and the need to exclude hypercortisolemia.

摘要:分泌促肾上腺皮质激素(ACTH)的垂体腺瘤引起的库欣病(CD)通常表现为体重增加,而内源性库欣病患者的体重减轻和低钾血症则提示ACTH异位分泌。我们报告了一例表现为体重明显减轻和低钾血症的非典型库欣病病例。一名 75 岁的女性因体重严重下降、伴有高血压失控、高血糖、近端重症肌无力和低钾血症而入院。随后进行的检查(包括 24 小时尿游离皮质醇、48 小时小剂量地塞米松抑制试验、蝶鞍核磁共振成像和双侧下蝶窦取样)证实她患有 CD,但没有任何异位促肾上腺皮质激素分泌的证据。在酮康唑和卡贝戈林的药物治疗下,她变得无皮质醇血症,随后恢复了体重,并变得正常钾血症。本病例说明,CD 患者可能会出现原本提示异位促肾上腺皮质激素分泌的症状和生化检查结果:学习要点:CD 患者并不总是表现出典型的临床特征,他们可能会表现出提示异位促肾上腺皮质激素分泌的症状和生化检查结果。虽然大多数 CD 患者在生化缓解后体重通常会减轻,但也有一些患者在皮质醇水平恢复正常后体重增加。本病例强调了对出现低钾血症和体重减轻的患者进行广泛鉴别的必要性,以及排除高皮质醇血症的必要性。
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引用次数: 0
A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria. 一名患有葡萄糖尿症和氨基酸尿症的糖尿病患者体内可能致病的新型杂合子 SLC5A2 变异体。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0065
Saohoine Inthasot, Julien Vanderhulst, Peter Janssens, Sien Van Daele, Evelien Van Hoof, Cyrielle Kint, Laura Iconaru, Jeroen de Filette

Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption. We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy. His main complaints were nocturia and an unintentional 5 kg weight loss in 1 year. A 24-h urinary collection revealed overt glucosuria (23.3 g/1.73 m2/24 h), generalized aminoaciduria, and increased uric acid excretion (fractional excretion: 6.4%). Whole-exome sequencing revealed a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene. Specific analysis of the maturity-onset diabetes of the young type (MODY) gene panel showed no pathogenic variants in the hepatocyte nuclear factor-1A (HNF-1A; MODY3) nor in other MODY-associated genes. We assume that the association of glucosuria, aminoaciduria, and increased uric acid excretion can be explained by the combination of diabetes and the likely pathogenic SLC5A2 variant in this patient. In conclusion, we describe a well-controlled diabetic patient with FRG, associated with a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene.

Learning points: The diagnosis of a renal tubular disorder should be considered in patients with unexplained glucosuria and diabetes mellitus, especially if the latter is well controlled. FRG usually presents with glucosuria but may be associated with generalized aminoaciduria and hyperuricosuria. Genetic analysis should be considered in patients with young-onset diabetes and glucosuria, particularly with a positive family history.

摘要家族性肾性葡萄糖尿症(FRG)是一种罕见的肾小管疾病,其特点是尽管血糖正常,但尿糖排泄增加。它最常见的病因是溶质运载家族 V 成员 2(SLC5A2)基因的致病变异。该基因编码钠-葡萄糖共转运体 2,对葡萄糖的重吸收至关重要。我们报告了一例 44 岁男性患者的病例,他因不明原因的葡萄糖尿而被转诊至内分泌科门诊,尽管他使用二甲双胍和格列齐特治疗糖尿病,病情控制良好。他的主要主诉是夜尿和一年内体重意外下降 5 公斤。24 小时尿液收集结果显示,他有明显的葡萄糖尿(23.3 克/1.73 平方米/24 小时)、全身性氨基酸尿和尿酸排泄增加(排泄分数:6.4%)。全外显子组测序发现,SLC5A2基因中存在一个可能致病的新型杂合c.469-1G>A变异。对成熟-发病型年轻糖尿病(MODY)基因面板的具体分析显示,肝细胞核因子-1A(HNF-1A;MODY3)和其他 MODY 相关基因中没有致病变异。我们认为,该患者出现葡萄糖尿、氨基酸尿和尿酸排泄增加的原因可能是糖尿病和可能的致病性 SLC5A2 变体共同作用的结果。总之,我们描述了一名病情控制良好的 FRG 糖尿病患者,该患者与 SLC5A2 基因中的一个新型杂合子 c.469-1G>A 可能致病变体有关:学习要点:对于不明原因的葡萄糖尿和糖尿病患者,尤其是糖尿病控制良好的患者,应考虑肾小管疾病的诊断。FRG通常表现为葡萄糖尿,但也可能伴有全身性氨基酸尿和高尿酸尿。对于年轻发病的糖尿病和糖尿患者,尤其是有阳性家族史的患者,应考虑进行遗传分析。
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引用次数: 0
The clinical diversity of primary hypothyroidism presenting as a spontaneous ovarian hyperstimulation syndrome. 原发性甲状腺功能减退症表现为自发性卵巢过度刺激综合征的临床多样性。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0084
Krishna Prabha, K Felix Jebasingh, Vaibhav Londhe, Nihal Thomas

Summary: Ovarian hyperstimulation syndrome (OHSS) usually occurs in patients undergoing assisted reproduction techniques and ovulation induction. Its variant, spontaneous ovarian hyperstimulation syndrome, a potentially life-threatening disorder, is uncommon and only a few cases have been reported in association with hypothyroidism. This study analysed five patients with untreated chronic hypothyroidism presenting with multicystic ovaries, isosexual precocious puberty, and delayed bone age; subsequently, the follow-up and regression of ovarian pathology was assessed. Two patients had presented to the emergency department with menorrhagia and hypotension, of these, one had ovarian torsion at presentation. Three patients presented to the outpatient department: one for evaluation of short stature, one for premature menarche, and another with polycystic ovaries. They were all diagnosed with long-standing, untreated chronic hypothyroidism. There was regression of the size of the cystic ovaries on subsequent follow-up. In all these patients, long-standing hypothyroidism had resulted in ovarian hyperstimulation syndrome. The potentially life-threatening complications of this syndrome may be prevented by careful screening and a strong index of clinical suspicion at the outset.

Learning points: Long-standing, untreated primary hypothyroidism may result in spontaneous ovarian hyperstimulation syndrome. A high index of suspicion is required for an early and accurate diagnosis. The requirement for interdepartmental collaboration between gynaecology and endocrinology departments is essential for the successful management of this life-threatening but easily treatable disorder.

摘要:卵巢过度刺激综合征(OHSS)通常发生在接受辅助生殖技术和促排卵的患者身上。其变异体--自发性卵巢过度刺激综合征是一种可能危及生命的疾病,但并不常见,仅有少数病例报告与甲状腺功能减退症有关。本研究分析了五例未经治疗的慢性甲状腺功能减退症患者,这些患者均伴有多囊卵巢、异性性早熟和骨龄延迟;随后,研究人员对患者的随访情况和卵巢病理变化的消退情况进行了评估。两名患者因月经过多和低血压到急诊科就诊,其中一人在就诊时卵巢扭转。三名患者到门诊部就诊:一名因身材矮小,一名因月经初潮过早,另一名因多囊卵巢就诊。他们都被诊断为长期未治疗的慢性甲状腺功能减退症。在随后的随访中,囊性卵巢的大小有所减小。在所有这些患者中,长期的甲状腺机能减退导致了卵巢过度刺激综合征。通过仔细筛查,并在一开始就对其进行严格的临床怀疑,可以避免该综合征潜在的危及生命的并发症:学习要点:长期未治疗的原发性甲状腺功能减退症可能导致自发性卵巢过度刺激综合征。要想及早做出准确诊断,需要高度怀疑。妇科和内分泌科之间的跨部门合作对于成功治疗这种危及生命但易于治疗的疾病至关重要。
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引用次数: 0
First reported case of multiple endocrine neoplasia type 1 in an Australian Aboriginal. 首例报告的澳大利亚原住民多发性内分泌肿瘤 1 型病例。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0004
Edward Mignone, Kirsten Neal

Summary: Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.

Learning points: Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.

摘要:多发性内分泌瘤病 1 型(MEN1)需要高度怀疑,晚期诊断可能导致严重后果。遗传咨询是治疗的重要组成部分,但在澳大利亚原住民群体中,缺乏有关最佳方法的证据。我们的病例涉及一名居住在偏远地区的48岁澳大利亚土著女性,她于2020年因持续性高钙血症接受了内分泌住院团队的复查,其背景是2011年因原发性甲状旁腺功能亢进症(PHPT)接受了甲状旁腺切除术,当时她因急性慢性腹痛住进了当地医院。相关病史包括多次肺栓塞/深静脉血栓形成、心肌梗塞、心房颤动、慢性血栓栓塞性肺动脉高压、右心衰、人类T淋巴细胞病毒1、反复腹痛和胃食管反流病。2013年和2015年的胃镜检查显示,患者患有慢性胃炎,并伴有数百个胃息肉。随后的实验室检查、神经内分泌肿瘤(NET)筛查和CT成像显示,PHPT复发,新诊断为卓-艾综合征。68-gallium-DOTATATE PET/CT 符合转移性 NET 的诊断。垂体检查结果正常。基因检测证实,MEN1基因第2外显子中存在罕见的c.207dupC杂合变异。由于患有晚期并发症,治疗以对症为主。曾尝试进行遗传咨询,但由于文化和后勤方面的障碍,家人拒绝了进一步的检测。不幸的是,她于 2021 年死于多因素呼吸衰竭。本病例突出表明,需要为偏远地区的澳大利亚土著居民提供更好的遗传咨询系统,并强调了早期识别的重要性以及偏远地区在做出此类罕见诊断时所面临的挑战:学习要点:偏远地区的医疗系统往往缺乏足够的专科医疗服务,导致罕见疾病的诊断延迟,并导致发病率和死亡率。需要进一步开展研究和工作,为偏远地区的澳大利亚原住民提供文化上适宜的遗传咨询系统。诊断 MEN1 需要高度怀疑。任何被诊断患有原发性甲状旁腺功能亢进症的患者都应考虑MEN1,年龄
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引用次数: 0
Brain metastasis mimicking a cavernous angioma as initial presentation of papillary thyroid carcinoma. 模仿海绵状血管瘤的脑转移瘤是甲状腺乳头状癌的首发症状。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0023
Ines Bucci, Cesidio Giuliani, Giulia Di Dalmazi, Daniele Intraina, Donato Zotta, Alfio Ieraci, Livio Presutti, Giorgio Napolitano

Summary: Brain metastases as the first clinical presentation of a papillary thyroid carcinoma (PTC) are exceptional, while cavernous angiomas are common cerebral malformations. We report the case of a 36-year-old male with an incidental brain lesion mimicking a cavernous angioma on MRI. Gamma knife radiosurgery was performed, but after 6 months, the patient developed neurological symptoms, and a repeat brain MRI revealed a significant increase in the mass. The patient underwent neurosurgery, and the histological examination of the lesion revealed metastatic carcinoma of thyroid origin. PET-CT and neck ultrasound, subsequently performed, were concordant for the presence of a right lobe nodule and ipsilateral lymph nodes, both with ultrasound features suspicious of malignancy. Total thyroidectomy with central and right lateral neck dissection was performed, and histology confirmed an intrathyroidal multifocal PTC with lymph node metastases. Postoperative radioiodine was administered, and focal uptake within the thyroid bed, without distant metastases or brain remnants, was found on the post-therapeutic whole-body scan. At 2 years from diagnosis, the patient is in good health and undergoes clinical and imaging follow-up.

Learning points: Brain cavernous angiomas are common cerebral vascular malformations that are usually diagnosed by MRI. Despite the high accuracy of MRI, the exam is not pathognomonic, and misdiagnosis cannot be excluded. Brain metastases from PTC are very rare; however, they can mimic a cavernous angioma. Therefore, the differential diagnosis should always be considered.

摘要:以脑转移为首发临床表现的甲状腺乳头状癌(PTC)并不多见,而海绵状血管瘤则是常见的脑畸形。我们报告了一例 36 岁男性的病例,他的脑部病变在磁共振成像上模仿了海绵状血管瘤。患者接受了伽玛刀放射外科手术,但 6 个月后出现了神经症状,复查脑部磁共振成像发现肿块明显增大。患者接受了神经外科手术,病变组织学检查显示为甲状腺转移癌。随后进行的PET-CT和颈部超声检查显示,患者右叶结节和同侧淋巴结的存在一致,超声特征均怀疑为恶性肿瘤。患者接受了甲状腺全切除术,并进行了颈部中央和右外侧清扫术,组织学检查证实患者为甲状腺内多灶性 PTC,并伴有淋巴结转移。术后使用了放射性碘,治疗后全身扫描发现甲状腺床内有局灶性摄取,无远处转移或脑残留。确诊两年后,患者健康状况良好,并接受了临床和影像学随访:学习要点:脑海绵状血管瘤是常见的脑血管畸形,通常通过核磁共振成像诊断。尽管核磁共振成像的准确率很高,但该检查并不具有病理诊断性,也不能排除误诊的可能。PTC 的脑转移非常罕见,但也可能与海绵状血管瘤相似。因此,应始终考虑鉴别诊断。
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引用次数: 0
Successful delivery in the setting of SDHB metastatic paraganglioma. 在 SDHB 转移性副神经节瘤的情况下成功分娩。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0016
M Majumder, M L Gild, B G Robinson

Summary: Pregnancy in the setting of metastatic paraganglioma is challenging, particularly in the context of tyrosine kinase use. We describe a 26-year-old female with a background of metastatic paraganglioma harboring a pathogenic SDHB variant, requiring sunitinib, which was withheld to facilitate the safe conception and delivery of a healthy baby. She required no alpha- or beta-blockade during her pregnancy and exhibited no signs of tumor progression or symptoms throughout this period. Historically, higher rates of fetal and maternal morbidity and mortality have been experienced in the setting of pregnancy. Although limited data exist on the management of metastatic paraganglioma in pregnant patients, this case suggests that careful treatment modifications, such as temporary tyrosine kinase therapy cessation and vigilant monitoring, can result in successful pregnancies without compromising maternal or fetal well-being.

Learning points: Paraganglioma in pregnancy has been associated with poor fetal and maternal morbidity and mortality. Many of the treatment modalities for metastatic paraganglioma, including tyrosine kinase inhibitors, can affect fertility or cannot be utilized in pregnancy, necessitating the temporary suspension of these treatments. This case exemplifies that careful clinical and biochemical monitoring during pregnancy is required to avoid maternal and fetal harm while balancing the risk of disease progression off treatment.

摘要:在患有转移性副神经管瘤的情况下怀孕具有挑战性,尤其是在使用酪氨酸激酶的情况下。我们描述了一名 26 岁女性的情况,她患有转移性副神经管瘤,并携带致病性 SDHB 变异,需要服用舒尼替尼,但为了安全受孕和分娩一个健康的婴儿,她没有服用舒尼替尼。她在怀孕期间无需使用α-或β-受体阻滞剂,也没有出现肿瘤进展的迹象或症状。从历史上看,妊娠期的胎儿和产妇发病率和死亡率都较高。虽然有关妊娠患者转移性副神经管瘤治疗的数据有限,但该病例表明,谨慎的治疗调整,如暂时停止酪氨酸激酶治疗和警惕性监测,可以在不损害母体或胎儿健康的情况下成功怀孕:学习要点:妊娠期副神经节瘤与胎儿和孕产妇的发病率和死亡率有关。许多治疗转移性副神经管瘤的方法,包括酪氨酸激酶抑制剂,都会影响生育能力,或者不能在妊娠期使用,因此必须暂时中止这些治疗。本病例说明,在妊娠期间需要仔细监测临床和生化指标,以避免对母体和胎儿造成伤害,同时平衡治疗后疾病进展的风险。
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引用次数: 0
Acquired isolated ACTH deficiency co-occurrence with breast cancer irrespective of paraneoplastic syndrome: coincidence or inevitability. 获得性孤立促肾上腺皮质激素缺乏症与乳腺癌并发,与副肿瘤综合征无关:巧合还是必然。
IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-19 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0129
Shin Urai, Hironori Bando, Mei Nakatsuji, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Wataru Ogawa

Summary: A 52-year-old female patient with breast cancer presented with a history of fatigue and malaise 1 year prior. She was diagnosed with isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) on endocrinological examination. Her pituitary gland showed normal morphology. Paraneoplastic IAD associated with breast cancer was suspected; however, immunofluorescence staining revealed no ectopic ACTH or proopiomelanocortin expression in the tumor tissue. Subsequently, the patient was diagnosed with idiopathic acquired IAD concurrent with breast cancer, ruling out paraneoplastic syndrome. Although malignancy should be considered a potential cause of IAD, not all patients with concurrent IAD and malignancy necessarily develop paraneoplastic syndrome.

Learning points: Several adrenal insufficiency symptoms are similar to the nonspecific symptoms associated with malignancies, and therefore, the diagnosis of IAD remains challenging, especially in patients with cancer. When we encounter a case of IAD accompanied by a malignant tumor, it is important to suspect that paraneoplastic IAD, a novel clinical condition as secondary hypophysitis, may be the etiologic agent. Although malignant tumours should be considered a potential cause of IAD, not all patients with concurrent IAD and malignancy necessarily develop paraneoplastic autoimmune hypophysitis.

摘要:一名 52 岁的女性乳腺癌患者在 1 年前曾出现乏力和不适症状。经内分泌检查,她被诊断为孤立性促肾上腺皮质激素(ACTH)缺乏症(IAD)。她的垂体形态正常。患者被怀疑患有与乳腺癌相关的副肿瘤性 IAD,但免疫荧光染色显示,肿瘤组织中没有异位促肾上腺皮质激素(ACTH)或原绒毛膜促皮质素(proopiomelanocortin)的表达。随后,患者被诊断为特发性获得性 IAD 并发乳腺癌,排除了副肿瘤综合征的可能性。虽然恶性肿瘤应被视为 IAD 的潜在病因,但并非所有同时患有 IAD 和恶性肿瘤的患者都一定会发展为副肿瘤综合征:学习要点:肾上腺功能不全的一些症状与恶性肿瘤相关的非特异性症状相似,因此,IAD 的诊断仍然具有挑战性,尤其是在癌症患者中。当我们遇到一例伴有恶性肿瘤的 IAD 病例时,必须怀疑继发性肾上腺皮质功能减退症这种新型临床症状可能是病因。虽然恶性肿瘤应被视为 IAD 的潜在病因,但并非所有同时患有 IAD 和恶性肿瘤的患者都一定会发展为副肿瘤性自身免疫性性腺功能减退症。
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引用次数: 0
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Endocrinology, Diabetes and Metabolism Case Reports
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