AACE Clinical Case Reports最新文献_第7页

Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome 一名李-弗劳米尼综合征患者的甲状腺乳头状癌、库欣病和肾上腺皮质癌

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.03.007

Jared G. Friedman MD, Ioannis G. Papagiannis MD, FACE

Background/Objective

Li-Fraumeni syndrome (LFS) is an inherited sequence variant in TP53 characterized by the early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and central nervous system tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.

Case Report

A 26-year-old nonbinary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance magnetic resonance imaging. Fine-needle aspiration of thyroid mass confirmed papillary thyroid carcinoma, and the patient underwent total thyroidectomy. Pituitary workup was notable for laboratory test results consistent with adrenocorticotropic hormone-dependent hypercortisolism; the patient underwent resection of the pituitary lesion. The patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.

Discussion

There is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 sequence variants may play a role in tumorigenesis in thyroid and pituitary neoplasms; however, most of the current literature is based on evidence of somatic rather than germline sequence variants.

Conclusion

This case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as papillary thyroid carcinoma and Cushing disease. Further investigation may be necessary to assess if patients with LFS are at a higher risk of various endocrine neoplasms in addition to the core malignancies classically described because this could affect future screening protocols.

背景/目的李-弗劳米尼综合征（Li-Fraumeni Syndrome，LFS）是一种 TP53 的遗传性序列变异，其特征是各种核心恶性肿瘤的早发，包括肾上腺皮质癌（ACC）、肉瘤、乳腺癌、白血病和中枢神经系统肿瘤。病例报告：一名 26 岁的非二元性患者，出生时被分配为女性，曾有 LFS 病史，并发有颌骨肉瘤，在监测磁共振成像时偶然发现其甲状腺和蝶窦肿块。甲状腺肿块细针穿刺证实为甲状腺乳头状癌，患者接受了甲状腺全切除术。垂体检查发现，实验室检查结果与肾上腺皮质激素依赖性皮质醇增多症一致；患者接受了垂体病变切除术。随后，腹部影像学检查发现患者左侧肾上腺有新的肿块；他们接受了左侧肾上腺切除术，病理结果与 ACC 一致。讨论有关 LFS 与甲状腺和垂体肿瘤之间关系的文献有限。基因检测表明，TP53 序列变异可能在甲状腺和垂体肿瘤的发生过程中起作用；但是，目前大多数文献都是基于体细胞序列变异而非种系变异的证据。除了经典的核心恶性肿瘤外，LFS 患者罹患各种内分泌肿瘤的风险是否更高，这可能会影响未来的筛查方案，因此有必要进行进一步调查。

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引用次数: 0

Editorial for May/June issue of AACE Clinical Case Reports 为《AACE 临床病例报告》5/6 月刊撰写的社论

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.04.008

Sina Jasim MD, MPH (Editor in Chief)

引用次数: 0

Polyuria, Sinopulmonary Symptoms, and Pituitary Mass 多尿、窦肺症状和垂体肿块

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.002

Anita V. Pechenenko MD , Seth J. Van Der Veer DO , Courtney A. Clutter MD

引用次数: 0

A Case of Primary Hyperparathyroidism Secondary to Parathyroid Adenoma in a Pediatric Patient 一例继发于甲状旁腺腺瘤的原发性甲状旁腺功能亢进症儿科患者

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.008

Gannon J. Ray MD , Joe S. Liles MD , Whei Ying Lim MBBS

Background/Objective

Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The typical presentation is symptomatic hypercalcemia. Management of PHTP secondary to PTA requires excision of the adenoma.

Case Report

A 13-year-old adolescent boy presented because of orbital cellulitis and was noted to have hypercalcemia. Despite this, the patient was curiously asymptomatic. Further investigations yielded an elevated parathyroid hormone (PTH) level and a normal urine calcium-to-creatinine ratio making the most likely cause of hypercalcemia PHTP secondary to PTA. Imaging demonstrated PTA. The patient underwent parathyroidectomy with the pathology demonstrating PTA. Postoperatively, the PTH levels were undetectable; hence, the patient was treated with calcitriol and calcium supplementation for 1 month and 4 months, respectively. Genetic work-up for multiple endocrine neoplasia 1 and rearranged during transfection mutations was negative.

Discussion

Solitary PTA is the most common cause of PHPT. Adenomas are mostly sporadic or may be a manifestation of an inheritable syndrome, such as multiple endocrine neoplasia. Although symptomatic disease is more common in children, our patient denied any hypercalcemia symptoms. The distinguishing biochemical feature of PHPT because of PTA is high or inappropriately normal PTH level in the context of high-normal or elevated serum calcium levels. Urinary calcium excretion is usually normal or high. PTAs are localized by ultrasound and Tc-99m-Sestamibi scintigraphy. Management includes parathyroidectomy and monitoring for postoperative hypocalcemia.

Conclusion

In a child or adolescent presenting with hypercalcemia and elevated PTH levels, it is important to consider PHPT secondary to PTA, because an early diagnosis will aid in preventing complications from hypercalcemia.

背景/目的原发性甲状旁腺功能亢进症（PHPT）虽然常见于成人，但在儿童中却很罕见，最常见的病因是单发性甲状旁腺腺瘤（PTA）。典型的表现是无症状性高钙血症。治疗继发于PTA的PHTP需要切除腺瘤。病例报告：一名13岁的青少年男孩因眼眶蜂窝组织炎就诊，被发现患有高钙血症。尽管如此，患者却奇怪地没有任何症状。进一步检查发现甲状旁腺激素（PTH）水平升高，尿钙肌酐比值正常，因此高钙血症最可能的原因是继发于PTA的PHTP。影像学检查显示患者患有PTA。患者接受了甲状旁腺切除术，病理结果显示为 PTA。术后，PTH水平检测不到，因此患者分别接受了为期1个月和4个月的降钙素三醇和钙补充剂治疗。多发性内分泌肿瘤 1 和转染过程中重排突变的基因检查结果均为阴性。腺瘤多为散发性，也可能是遗传综合征（如多发性内分泌肿瘤）的一种表现形式。虽然有症状的疾病多见于儿童，但我们的患者否认有任何高钙血症症状。由 PTA 引起的 PHPT 的生化特征是在血清钙水平正常或升高的情况下，PTH 水平偏高或不正常。尿钙排泄通常正常或偏高。PTA可通过超声和Tc-99m-Sestamibi闪烁扫描进行定位。结论如果儿童或青少年出现高钙血症和 PTH 水平升高，必须考虑继发于 PTA 的 PHPT，因为早期诊断有助于预防高钙血症引起的并发症。

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引用次数: 0

Hematospermia in a Transgender Woman with Evidence for Endometrial Tissue in the Prostate 一名变性女性的血精症与前列腺中子宫内膜组织的证据

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.01.006

Janet Coleman-Belin BS , Uchechukwu O. Amakiri BS , Fang-Ming Deng MD, PhD , Deepthi Hoskoppal MD , Joshua D. Safer MD , Tamar Reisman MD

Background/Objective

The frequency of hematospermia in transgender women is unknown. This report aimed to describe the development of hematospermia in a transgender woman.

Case Report

A 35-year-old transgender woman treated with estradiol valerate and leuprolide presented with painless rust-tinged ejaculate, urethral bleeding after ejaculation, and intermittent hematuria. Her medical history included gastroesophageal reflux disease, internal hemorrhoids, and attention deficit hyperactivity disorder with negative tobacco smoking and urologic history. Additional medications included emtricitabine-tenofovir disoproxil fumarate and fexofenadine. Physical examination did not reveal constitutional or genitourinary abnormalities. Urinalysis and culture disclosed rare white blood cells with gram-variable bacilli. The chlamydia, gonorrhea, and human immunodeficiency virus test results were negative. Abdominal computed tomography did not reveal bladder or prostate cancer, calcifications, inflammation, or cysts. She continued to have symptoms after this initial workup. One year after the initial symptom onset, transrectal ultrasound disclosed a 1.7-cm midline posterior prostatic cyst with hemorrhagic products, later revealed by magnetic resonance imaging as communicating with the left seminal vesicle. Two ultrasound-guided transperineal biopsy samples revealed benign prostatic tissue with a small focus of Müllerian or endometrial-type tissue, evidenced by immunopositivity for paired-box gene 8 and estrogen receptor in epithelium and cluster of differentiation 10 immunopositivity in stroma. After medical consultation, the patient underwent prostatic cyst aspiration, resection of the transurethral ejaculatory ducts, and orchiectomy. She did not experience any complications after these procedures.

Discussion

The etiology of hematospermia may be idiopathic, iatrogenic, anatomic, or pathologic.

Conclusion

Occult endometriosis or ectopic Müllerian epithelial tissue growth may occur in transgender women taking feminizing gender-affirming hormone therapy.

背景/目的变性女性发生血精症的频率尚不清楚。病例报告一位 35 岁的变性女性在接受戊酸雌二醇和亮丙瑞林治疗后出现无痛铁锈色射精、射精后尿道出血和间歇性血尿。她的病史包括胃食管反流病、内痔和注意力缺陷多动障碍，吸烟史和泌尿科病史均为阴性。其他药物包括富马酸恩曲他滨-替诺福韦二吡呋酯和非索非那定。体格检查未发现体质或泌尿生殖系统异常。尿液分析和培养结果显示，罕见白细胞中含有革兰氏变异杆菌。衣原体、淋病和人类免疫缺陷病毒检测结果均为阴性。腹部计算机断层扫描未发现膀胱癌或前列腺癌、钙化、炎症或囊肿。初次检查后，她继续出现症状。最初出现症状一年后，经直肠超声检查发现了一个 1.7 厘米的中线后前列腺囊肿，囊肿内有出血产物，后来经磁共振成像检查发现囊肿与左侧精囊相通。两份超声引导下的经会阴活检样本显示为良性前列腺组织，其中有一小灶为穆勒氏组织或子宫内膜型组织，上皮中的配对盒基因8和雌激素受体免疫阳性，基质中的分化簇10免疫阳性。经医生会诊后，患者接受了前列腺囊肿抽吸术、经尿道射精管切除术和睾丸切除术。讨论血精症的病因可能是特发性的、先天性的、解剖学的或病理学的。

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引用次数: 0

Cushing Syndrome Due to a Corticotropin-Releasing Hormone– and Adrenocorticotropic Hormone–Secreting Silent Pheochromocytoma 由分泌 CRH 和 ACTH 的无声嗜铬细胞瘤引起的库欣综合征。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.01.007

Sananda Moctezuma MD , Jonathan L. Perez BS , Ezra Baraban MD , Patrizio Caturegli MD, MPH , Lilah Morris-Wiseman MD , Roberto Salvatori MD

Background/Objective

Ectopic cosecretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) in silent (ie, non–catecholamine-secreting) pheochromocytoma is a rare cause of Cushing syndrome.

Case Report

A 57-year-old woman rapidly developed hypercortisolism, clinically manifesting as fatigue, muscle weakness, weight gain, and worsening hypertension and biochemically characterized by hypokalemia and marked increases in the serum cortisol and plasma ACTH levels. This acute presentation suggested a diagnosis of ectopic ACTH syndrome (EAS). Imaging studies revealed a right adrenal mass that enhanced after administration of the radioisotope gallium-68-DOTATATE. Plasma metanephrines were normal in 2 separate measurements. The possibility of a silent pheochromocytoma was considered. After controlling her hypercortisolism with metyrapone and surgical preparation with alpha blockade, the patient underwent elective right adrenalectomy. Pathology revealed a pheochromocytoma that stained focally for ACTH and CRH. Postoperatively, the cortisol levels normalized, the hypothalamic-pituitary-adrenal axis was not suppressed, and clinical symptoms from hypercortisolism abated.

Discussion

Patients who exhibit a rapid progression of ACTH-dependent hypercortisolism should be screened for EAS. The use of functional imaging radioisotopes (eg, gallium DOTA-peptides) improves the detection of ACTH-secreting tumors. Preoperative treatment with steroidogenesis inhibitors helps control clinical and metabolic derangements associated with severe hypercortisolemia, whereas alpha blockade prevents the onset of an adrenergic crisis.

Conclusion

We present a rare case of EAS due to a silent pheochromocytoma that cosecreted ACTH and CRH. Pheochromocytoma should be considered in patients with EAS who have an adrenal mass even in the absence of excessive catecholamine secretion.

背景/目的沉默型（即不分泌儿茶酚胺）嗜铬细胞瘤异位分泌促肾上腺皮质激素释放激素（CRH）和促肾上腺皮质激素（ACTH）是库欣综合征的罕见病因。病例报告：一名 57 岁的妇女迅速出现皮质醇过多症，临床表现为疲劳、肌肉无力、体重增加和高血压恶化，生化特征为低钾血症和血清皮质醇及血浆促肾上腺皮质激素水平明显升高。这种急性表现提示异位促肾上腺皮质激素综合征（EAS）的诊断。影像学检查显示，右侧肾上腺肿块在使用放射性同位素镓-68-DOTATATE后增大。两次测量血浆甲肾上腺素均正常。考虑可能是无声嗜铬细胞瘤。在使用甲地孕酮控制高皮质醇血症并使用α受体阻滞剂进行手术准备后，患者接受了选择性右肾上腺切除术。病理检查发现了一个嗜铬细胞瘤，其ACTH和CRH局部染色。术后，皮质醇水平恢复正常，下丘脑-垂体-肾上腺轴没有受到抑制，高皮质醇血症的临床症状减轻。功能成像放射性同位素（如 DOTA 肽镓）的使用提高了对分泌 ACTH 肿瘤的检测能力。术前使用类固醇生成抑制剂治疗有助于控制与严重高皮质醇血症相关的临床和代谢紊乱，而α受体阻滞剂则可防止肾上腺素能危象的发生。EAS患者即使没有过多的儿茶酚胺分泌，但如果有肾上腺肿块，也应考虑嗜铬细胞瘤。

{"title":"Cushing Syndrome Due to a Corticotropin-Releasing Hormone– and Adrenocorticotropic Hormone–Secreting Silent Pheochromocytoma","authors":"Sananda Moctezuma MD , Jonathan L. Perez BS , Ezra Baraban MD , Patrizio Caturegli MD, MPH , Lilah Morris-Wiseman MD , Roberto Salvatori MD","doi":"10.1016/j.aace.2024.01.007","DOIUrl":"10.1016/j.aace.2024.01.007","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Ectopic cosecretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) in silent (ie, non–catecholamine-secreting) pheochromocytoma is a rare cause of Cushing syndrome.</p></div><div><h3>Case Report</h3><p>A 57-year-old woman rapidly developed hypercortisolism, clinically manifesting as fatigue, muscle weakness, weight gain, and worsening hypertension and biochemically characterized by hypokalemia and marked increases in the serum cortisol and plasma ACTH levels. This acute presentation suggested a diagnosis of ectopic ACTH syndrome (EAS). Imaging studies revealed a right adrenal mass that enhanced after administration of the radioisotope gallium-68-DOTATATE. Plasma metanephrines were normal in 2 separate measurements. The possibility of a silent pheochromocytoma was considered. After controlling her hypercortisolism with metyrapone and surgical preparation with alpha blockade, the patient underwent elective right adrenalectomy. Pathology revealed a pheochromocytoma that stained focally for ACTH and CRH. Postoperatively, the cortisol levels normalized, the hypothalamic-pituitary-adrenal axis was not suppressed, and clinical symptoms from hypercortisolism abated.</p></div><div><h3>Discussion</h3><p>Patients who exhibit a rapid progression of ACTH-dependent hypercortisolism should be screened for EAS. The use of functional imaging radioisotopes (eg, gallium DOTA-peptides) improves the detection of ACTH-secreting tumors. Preoperative treatment with steroidogenesis inhibitors helps control clinical and metabolic derangements associated with severe hypercortisolemia, whereas alpha blockade prevents the onset of an adrenergic crisis.</p></div><div><h3>Conclusion</h3><p>We present a rare case of EAS due to a silent pheochromocytoma that cosecreted ACTH and CRH. Pheochromocytoma should be considered in patients with EAS who have an adrenal mass even in the absence of excessive catecholamine secretion.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 3","pages":"Pages 84-88"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000075/pdfft?md5=5dd4c1da1751e233132665d59d41fec2&pid=1-s2.0-S2376060524000075-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139875101","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

Severe Hyponatremia Triggered by Immune Checkpoint Inhibitor Therapy in a Patient With Mulvihill-Smith Syndrome 一名马尔维希尔-史密斯综合征患者因接受免疫检查点抑制剂治疗而引发严重低钠血症

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.03.002

Tammy Tavdy DO , Janaki Manasa Samavedam MD , Priyanka Mathias MD , Hanna J. Lee MD

Background/Objective

Immune checkpoint inhibitors (ICI), including Programmed Cell Death 1, Programmed Cell Death Ligand 1, and Cytotoxic T-lymphocyte Associated Antigen 4 inhibitors, upregulate T-cell responses against tumor cells and are becoming a cornerstone in the treatment of various advanced solid and hematological cancers. Mulvihill-Smith Syndrome (MSS) is a rare genetic syndrome that has been associated with metabolic abnormalities and early-onset tumors, including malignancies. We report the first known case of ICI-induced hyponatremia attributable to syndrome of inappropriate antidiuretic hormone ADH release (SIADH) in a patient with MSS.

Case Report

A 23-year-old female patient with MSS and hepatocellular carcinoma presented with recurrent hyponatremia. Assessment of fluid status and electrolytes revealed a euvolemic, hypotonic process consistent with SIADH shortly after initiating adjuvant therapy with atezolizumab, a Programmed Cell Death Ligand 1 inhibitor.

Discussion

Endocrine etiologies for euvolemic hypotonic hyponatremia, including adrenal insufficiency and hypothyroidism, were excluded. The diagnosis of SIADH was confirmed based on electrolyte and osmolality studies. Sodium levels normalized with fluid restriction. Given the onset of hyponatremia 30 days after atezolizumab initiation, we posit that atezolizumab triggered severe hyponatremia due to SIADH.

Conclusion

With the expanding utilization of ICIs, including in patients predisposed to malignancies such as MSS, vigilant monitoring for ICI-mediated electrolyte imbalances is crucial. Monitoring for hyponatremia and SIADH in the setting of ICI therapy is recommended.

背景/目的免疫检查点抑制剂（ICI），包括程序性细胞死亡1（Programmed Cell Death 1）、程序性细胞死亡配体1（Programmed Cell Death Ligand 1）和细胞毒性T淋巴细胞相关抗原4（Cytotoxic T-lymphocyte Associated Antigen 4）抑制剂，可提高T细胞对肿瘤细胞的反应，正成为治疗各种晚期实体癌和血液肿瘤的基石。马尔维希尔-史密斯综合征（Mulvihill-Smith Syndrome，MSS）是一种罕见的遗传综合征，与代谢异常和早发肿瘤（包括恶性肿瘤）有关。我们报告了首例已知的 ICI 引起的低钠血症病例，该病可归因于 MSS 患者抗利尿激素 ADH 不适当释放综合征（SIADH）。在开始使用程序性细胞死亡配体1抑制剂阿特祖利珠单抗（atezolizumab）进行辅助治疗后不久，患者的体液状态和电解质评估显示出现了与SIADH一致的等容量低张性低钠血症过程。电解质和渗透压研究证实了 SIADH 的诊断。限制输液后，钠含量恢复正常。鉴于低钠血症是在开始使用阿特珠单抗30天后出现的，我们认为阿特珠单抗引发了SIADH导致的严重低钠血症。结论随着ICIs的使用范围不断扩大，包括易患恶性肿瘤（如MSS）的患者，警惕监测ICI介导的电解质失衡至关重要。建议在 ICI 治疗过程中监测低钠血症和 SIADH。

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引用次数: 0

Recurrent Pheochromocytoma With Bone Metastasis Eight Years After Bilateral Adrenalectomies in a Patient With Neurofibromatosis Type 1 一名神经纤维瘤病 1 型患者双侧肾上腺切除术八年后复发嗜铬细胞瘤并骨转移

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.006

Elvina Yunasan MD , Xinyuan Ning MD , Mohammed Rifat Shaik MBBS , Marjorie Pennant MD

Background/Objective

Pheochromocytoma can recur years after curative surgical resection. Rarely, it may reoccur as metastasis. Here, we present a case of metastatic pheochromocytoma to the bones in a patient with neurofibromatosis type 1 (NF1), 8 years after initial resection of primary bilateral adrenal pheochromocytomas without metastases.

Case Report

A 44-year-old woman presented with diffuse body pain and palpitations. Her past medical history included NF1 and hypertension. Eight years prior to her current presentation, she had undergone a bilateral adrenalectomy for the management of bilateral adrenal pheochromocytomas. Her plasma metanephrines normalized after surgery and remained normal at her 1-year postoperative visit. She was subsequently lost to follow-up until her current presentation. Our evaluation revealed significantly elevated urine and plasma metanephrines as well as innumerable DOTATATE avid lesions along the axial and perpendicular spine compatible with a metastatic neuroendocrine tumor. She was started on doxazosin and metoprolol and discharged home with a plan to be seen by Oncology to discuss systemic therapy.

Discussion

Predicting malignant disease in patients with primary tumors without metastases is challenging. There is no single factor that can reliably predict tumor behavior. It is unknown if individuals with NF1, who have a genetic predisposition for developing pheochromocytomas, are at an increased risk of malignant disease.

Conclusion

Due to a lack of accurate predictors, annual biochemical testing is recommended after primary tumor resection and in patients with a genetic predisposition. Strict lifelong follow-up should be strongly considered due to a possible higher risk of malignant disease.

背景/目的嗜铬细胞瘤可在治愈性手术切除后数年复发。罕见的是，它可能以转移瘤的形式复发。在此，我们介绍了一例神经纤维瘤病 1 型（NF1）患者在初次切除原发性双侧肾上腺嗜铬细胞瘤 8 年后转移至骨骼的嗜铬细胞瘤病例。她的既往病史包括 NF1 和高血压。在这次就诊的八年前，她接受了双侧肾上腺切除术，以治疗双侧肾上腺嗜铬细胞瘤。术后她的血浆甲肾上腺素恢复正常，术后一年复查时仍保持正常。随后，她失去了随访机会，直到现在的病例。我们的评估结果显示，她的尿液和血浆中的甲肾上腺素明显升高，沿轴向和垂直脊柱有无数的多巴胺嗜性病变，与转移性神经内分泌肿瘤相吻合。她开始服用多沙唑嗪和美托洛尔，然后出院回家，并计划到肿瘤科就诊，讨论全身治疗方案。讨论预测无转移的原发性肿瘤患者的恶性疾病具有挑战性。没有一个因素可以可靠地预测肿瘤的行为。由于缺乏准确的预测因素，建议在原发性肿瘤切除术后和有遗传倾向的患者中每年进行一次生化检测。由于恶性疾病的风险可能较高，因此应强烈考虑进行严格的终身随访。

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引用次数: 0

Hypoglycemia Unawareness and Recurrent Severe Hypoglycemia in an Individual With Type 1 Diabetes Mellitus on Insulin 使用胰岛素的 1 型糖尿病患者对低血糖的不自知和反复出现的严重低血糖。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.03.001

Carlos Escudero MD, MSc , Alaa Husain MD, FRCPC , Amel Arnaout MD, FRCPC

Background/Objective

Hypoglycemia unawareness is a complication of recurrent hypoglycemia that can complicate diabetes management and impact quality of life. We present the case of an individual with type 1 diabetes with hypoglycemia unawareness and recurrent severe hypoglycemia requiring emergency intervention.

Case Report

A 55-year-old man with type 1 diabetes was referred for hypoglycemia unawareness and recurrent hypoglycemia with seizures. Over the prior 4 years he had >400 paramedic responses with 56 hospitalizations. Blood glucose levels ranged between 0.7 and 2.4 mmol/L during these episodes and presenting Hemoglobin A1c (HbA1c) was 4.6% (28 mmol/mol). He was taking insulin glargine daily and aspart with meals via insulin pens with no alternative etiology for his hypoglycemia was identified. The patient expressed difficulty with self-management, social instability, and limited appointment attendance. He was provided a continuous glucose monitor, educational support, and glycemic targets were broadened. After 6 months, HbA1c was 4.6% (28 mmol/mol) and he had 65 paramedic responses. A multidisciplinary team was organized for biweekly follow-up, community outreach, remote technological support, and psychological counseling. After 2 years, the patient had 2 emergency responses and HbA1c was 7.2% (55.2 mmol/mol).

Discussion

Permissive hyperglycemia, educational interventions, and continuous glucose monitoring are validated strategies for prevention of hypoglycemia. Limiting hypoglycemia is crucial to restore hypoglycemia awareness, and in severe cases may require high intensity follow-up, community outreach, and psychosocial support.

Conclusion

Hypoglycemia unawareness can complicate hypoglycemia prevention. Severe refractory cases are often multifaceted and may warrant a multidisciplinary approach to identify and target patient-specific needs.

背景/目的低血糖不自知是反复低血糖的一种并发症，会使糖尿病管理复杂化并影响生活质量。病例报告一名 55 岁的 1 型糖尿病男性患者因低血糖无意识和反复低血糖伴癫痫发作而转诊。在过去的 4 年中，他接受过 400 次急救，住院治疗 56 次。在这些发作期间，血糖水平在 0.7 至 2.4 mmol/L 之间，血红蛋白 A1c (HbA1c) 为 4.6% (28 mmol/mol)。他每天通过胰岛素笔服用格列美脲胰岛素和阿斯巴甜胰岛素，低血糖的其他病因未找到。患者表示在自我管理方面存在困难，社交活动不稳定，赴约次数有限。为他提供了连续血糖监测仪和教育支持，并扩大了血糖目标。6 个月后，患者的 HbA1c 为 4.6%（28 mmol/mol），有 65 次护理响应。组织了一个多学科团队，每两周进行一次随访、社区宣传、远程技术支持和心理咨询。2 年后，该患者仅有 2 次急救反应，HbA1c 为 7.2% (55.2 mmol/mol)。讨论许可性高血糖、教育干预和连续血糖监测是预防低血糖的有效策略。限制低血糖是恢复低血糖意识的关键，严重病例可能需要高强度的随访、社区宣传和社会心理支持。严重的难治性病例通常涉及多个方面，可能需要采用多学科方法来识别和满足患者的特定需求。

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引用次数: 0

Hypercalcemia Associated With Severe Dysphagia in a Patient With Parathyroid Adenoma and Significant Cervical Spondylophytes 一名患有甲状旁腺腺瘤和严重颈椎骨质增生的患者因严重吞咽困难而引发的高钙血症

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.004

Duje Čulina MD , Mirta Peček MD , Tomislav Gregurić MD, PhD , Ivana Aras MD, PhD , Andro Košec MD, PhD, FEBORL-HNS , Siniša Stevanović MD, PhD

Background/Objective

Severe dysphagia is a rare presenting symptom of primary hyperparathyroidism, whereas the most common hypercalcemia-related causes include gastrointestinal symptoms, such as anorexia, constipation, and pancreatitis. This case presentation aimed to describe swallowing difficulty as a leading symptom of hypercalcemia.

Case Report

A 62-year-old man experienced vomiting, dysphagia bordering with aphagia, and 20-kg weight loss in a 2-month period. The parathyroid hormone and serum calcium levels were 102 pmol/L (reference range, 1.8-7.9 pmol/L) and 4.12 mmol/L (reference range, 2.14-2.53 mmol/L), respectively. Ultrasound-guided exploration of the neck revealed a large, rounded hypoechoic mass inferior to the left thyroid lobe, which contained parathyroid tissue on fine-needle aspiration cytology examination. Contrast-enhanced neck computed tomography revealed a mass measuring 3.6 × 2.6 × 2.5 cm behind the left thyroid lobe, alongside massive ventral spondylophytes of the cervical spine at the level of the postcricoid segment of the hypopharynx. Magnetic resonance imaging confirmed ventral tissue displacement due to spondylophyte size and location. Surgical exploration of the left side of the neck was performed, and the left lower parathyroid gland weighing 9.07 g was excised. Pathohistologic findings verified a parathyroid gland adenoma. The postoperative values showed parathyroid hormone and serum calcium levels at 4.54 pmol/L and 2.25 mmol/L, respectively.

Discussion

The pathophysiology of dysphagia in hypercalcemia is not fully elucidated. In this case, the patient’s improvement after surgery implies a plausible connection between hypercalcemia and dysphagia, suggesting a causal relationship.

Conclusion

Although aphagia is not a typical presenting symptom of parathyroid adenoma, it should be noted in the differential diagnosis.

背景/目的严重吞咽困难是原发性甲状旁腺功能亢进症的罕见症状，而最常见的高钙血症相关原因包括胃肠道症状，如厌食、便秘和胰腺炎。本病例旨在描述作为高钙血症主要症状的吞咽困难。病例报告：一名 62 岁的男性在两个月内出现呕吐、吞咽困难和吞咽困难，体重减轻了 20 公斤。甲状旁腺激素和血清钙水平分别为 102 pmol/L（参考范围：1.8-7.9 pmol/L）和 4.12 mmol/L（参考范围：2.14-2.53 mmol/L）。超声引导下的颈部探查显示，左甲状腺叶下部有一个巨大的圆形低回声肿块，细针穿刺细胞学检查显示其中含有甲状旁腺组织。对比增强颈部计算机断层扫描显示，左甲状腺叶后方有一个大小为 3.6 × 2.6 × 2.5 厘米的肿块，同时在下咽环后段水平还发现了颈椎腹侧的大量脊椎骨赘生物。磁共振成像证实，脊柱叶的大小和位置导致腹侧组织移位。对左侧颈部进行了手术探查，切除了重达9.07克的左下甲状旁腺。病理组织学检查结果证实为甲状旁腺腺瘤。术后数值显示甲状旁腺激素和血清钙水平分别为4.54 pmol/L和2.25 mmol/L。虽然吞咽困难并不是甲状旁腺腺瘤的典型症状，但在鉴别诊断中应引起注意。

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