AACE Clinical Case Reports最新文献_第2页

A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier 希望的灯塔：在巴基斯坦的卫生保健前沿面对巴氏综合症

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.12.006

Deedar Ahmad Mian MBBS , Zaryab Ali Shah MBBS , Muhammad Tabish Ikram MBBS , Komal Fatima MBBS , Hasnain Hamid MBBS , Haseeb Ahmad MBBS

Background/Objective

This report presents a case of Bardet-Biedl Syndrome (BBS) in a 12-year-old boy from a nonconsanguineous Pakhtoon family in Peshawar, Pakistan, exploring its clinical complexity in a region with previously undocumented prevalence. First identified in the 19th century, BBS is a rare autosomal recessive disorder known for its variable symptomatology and genetic heterogeneity, primarily affecting children with a familial history of consanguinity.

Case Report

The subject exhibited hallmark features including polydactyly, syndactyly, developmental delays, central obesity, retinitis pigmentosa, and newly diagnosed diabetes mellitus, diverging from typical consanguineous patterns observed in most BBS cases and reflecting the diverse clinical manifestations of the syndrome. Despite challenges in diagnosis and management, accentuated by limited regional healthcare resources, a comprehensive management plan was formulated, leading to controlled blood sugar levels.

Discussion

This case emphasizes the need for increased awareness, improved diagnostic capabilities, and comprehensive management strategies in Pakistan to address the complexities of BBS effectively, particularly in settings with high consanguinity rates and specific cultural marital practices.

Conclusion

This case underscores the importance of heightened clinical awareness and early recognition among healthcare providers, particularly in regions where cultural practices, such as consanguineous marriages, may predispose to genetic syndromes like BBS.

背景/目的本报告报告了一例来自巴基斯坦白沙瓦非近亲Pakhtoon家族的12岁男孩Bardet-Biedl综合征（BBS），探讨其在以前无文献记载的流行地区的临床复杂性。BBS于19世纪首次被发现，是一种罕见的常染色体隐性遗传病，以其多变的症状和遗传异质性而闻名，主要影响有家族血缘史的儿童。病例报告：该患者表现出多指、并指、发育迟缓、中枢性肥胖、视网膜色素变性和新诊断的糖尿病等标志性特征，与大多数BBS病例的典型近亲系不同，反映了该综合征的多种临床表现。尽管在诊断和管理方面存在挑战，但由于区域医疗资源有限，制定了综合管理计划，导致血糖水平得到控制。本病例强调了巴基斯坦需要提高认识，提高诊断能力和综合管理策略，以有效解决BBS的复杂性，特别是在高血缘率和特定文化婚姻习俗的环境中。结论：本病例强调了医疗保健提供者提高临床意识和早期认识的重要性，特别是在文化习俗（如近亲婚姻）可能易患BBS等遗传综合征的地区。

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引用次数: 0

A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors 多发性1型内分泌肿瘤和侵袭性胰腺神经内分泌肿瘤家族的新突变

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.12.007

Talita Fischer Oliveira MD, MSc , Humberto Batista Ferreira MD, MSc , Luís Henrique Dias Lima MD , Anna Luiza Braga Albuquerque , Juliana Beaudette Drummond MD, PhD , Beatriz Santana Soares MD, PhD

Background

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder characterized by the occurrence of combined tumors in different glands, usually the parathyroid, pancreas and pituitary, as well as in other parts of the digestive tract. The present study describes the phenotype of a Brazilian family with MEN1 caused by a previously unreported MEN1 gene mutation.

Case Report

We report the case of a 41-year-old male, the proband, who presented with angiofibromas, primary hyperparathyroidism, macroprolactinoma, and pancreatic neuroendocrine tumor. Next generation sequencing analysis of the MEN1 gene in the patient's peripheral blood DNA sample revealed a deletion of 16 base pairs (c.1366-12_1369del;p) resulting in a framing error. Additional 5 members of the family (4 brothers and a first cousin) presented with clinical features of MEN1. All brothers underwent mutation screening and tested positive for the same genetic variant. Two of them were also diagnosed with papillary thyroid carcinoma.

Discussion

The c.1366-12_1369del;p mutation is located between the 10th and last exon of the MEN 1 gene and it's preceding intron, encompassing the canonical sites in the splice junction. The 10th exon of MEN1, possibly lost with this variant, encodes the last 163 amino acids that compose the Menin protein's C-terminal region, which harbors nuclear localization signals essential for its internalization into the nuclear compartment and interaction with the nuclear matrix.

Conclusion

Our case reports add to the literature the description of a new pathogenic variant of the MEN 1 gene.

背景：1型多发性内分泌瘤（MEN1）是一种罕见的常染色体显性遗传病，其特征是不同腺体（通常是甲状旁腺、胰腺和垂体）以及消化道其他部位的联合肿瘤。本研究描述了一个巴西MEN1家族的表型，该家族是由先前未报道的MEN1基因突变引起的。病例报告我们报告一例41岁男性先证者，其表现为血管纤维瘤、原发性甲状旁腺功能亢进、巨泌乳素瘤和胰腺神经内分泌肿瘤。对患者外周血DNA样本中MEN1基因的下一代测序分析显示16个碱基对的缺失（c.1366-12_1369del;p）导致框架错误。另外5名家庭成员（4名兄弟和1名表兄）表现出MEN1的临床特征。所有的兄弟都接受了突变筛查，结果显示相同的基因变异呈阳性。其中两人还被诊断为甲状腺乳头状癌。c.1366-12_1369del；p突变位于MEN 1基因的第10和最后一个外显子与其前面的内含子之间，包含剪接连接处的规范位点。MEN1的第10个外显子编码了最后163个氨基酸，这些氨基酸组成Menin蛋白的c端区域，该区域包含核定位信号，对于其内化到核室并与核基质相互作用至关重要。结论我们的病例报告增加了对MEN 1基因新的致病变异的描述。

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引用次数: 0

Chorea due to Graves' Hyperthyroidism 格雷夫斯甲亢所致舞蹈病

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2025.01.003

Nobuhiro Nakatake MD , Hayato Usami MD , Hidehiro Shibayama MD

引用次数: 0

An Unexpected Endocrine Disorder Found During Nasal Endoscopy 鼻内窥镜检查中意外发现内分泌紊乱

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2025.01.004

Arjun Patel MD, Vinh Mai DO

引用次数: 0

Osteitis Fibrosa Cystica With Complete Bony Destruction 囊性纤维性骨炎伴完全骨破坏

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.11.007

Khalid N. Sheikh MD, Pratima V. Kumar MD

引用次数: 0

Parathyroid Crisis and Thromboembolism: Association or Coincidence? 甲状旁腺危象与血栓栓塞：关联还是巧合？

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.12.005

Zhanna Zavgorodneva MD , Irving Guatemala MD , Tooraj Zahedi MD , Fan Zhang MD, PhD

Background/Objective

The association between hypercalcemia and the risk of thromboembolic events is not clearly understood. Here, we present a unique case of a patient diagnosed with bilateral pulmonary thromboembolism in the setting of a parathyroid crisis due to primary hyperparathyroidism (PHPT). Our case may suggest a potential correlation between thromboembolism and PHPT with severe hypercalcemia. Nowadays just a few case reports provide support for this association, particularly in the settings of significant calcium and parathyroid hormone (PTH) derangement.

Case Report

A 70-year-old woman presented to the hospital with a few weeks’ onset of fatigue, difficulty walking, and shortness breath. Laboratory investigations revealed significantly elevated serum calcium (19.2 mg/dL) and PTH (1156 pg/mL) levels. Her past medical history was significant for PHPT with mild hypercalcemia since 2014. Computerized tomography and thyroid ultrasound of the neck showed a high suspicion of a left parathyroid adenoma. A computerized tomography angiogram of the chest revealed a bilateral lower lobe pulmonary embolism. The patient underwent medical management for hypercalcemia and pulmonary embolism, followed by parathyroidectomy. Pathology reports confirmed the diagnosis of parathyroid adenoma.

Discussion

The clinical significance of hyperparathyroidism, leading to subsequent hypercalcemia and its association with the development of a procoagulable state, has been elucidated in a very limited number of case reports.

Conclusion

This case suggests that parathyroid crisis with hypercalcemia could potentially provoke thromboembolic events. However, this phenomenon could be explained by an extremely high level of PTH and calcium.

背景/目的高钙血症与血栓栓塞事件风险之间的关系尚不清楚。在这里，我们提出了一个独特的病例患者诊断为双侧肺血栓栓塞设置甲状旁腺危象由于原发性甲状旁腺功能亢进（PHPT）。我们的病例可能提示血栓栓塞和PHPT与严重高钙血症之间存在潜在的相关性。如今，只有少数病例报告支持这种联系，特别是在钙和甲状旁腺激素（PTH）紊乱的情况下。病例报告：一名70岁妇女因数周开始出现疲劳、行走困难和呼吸短促而入院。实验室调查显示血清钙（19.2 mg/dL）和甲状旁腺激素（1156 pg/mL）水平显著升高。自2014年起，既往病史为PHPT伴轻度高钙血症。颈部电脑断层及甲状腺超音波显示高度怀疑为左侧甲状旁腺瘤。胸部电脑断层造影显示双侧下叶肺栓塞。患者接受了高钙血症和肺栓塞的医学治疗，随后进行了甲状旁腺切除术。病理报告证实诊断为甲状旁腺瘤。甲状旁腺功能亢进的临床意义，导致随后的高钙血症及其与促凝状态发展的关系，已经在非常有限的病例报告中得到阐明。结论本病例提示甲状旁腺危象伴高钙血症可能诱发血栓栓塞事件。然而，这种现象可以解释为甲状旁腺激素和钙水平极高。

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引用次数: 0

Acral Mesenchymal Tumor Leading to Tumor-Induced Osteomalacia: Case Report and Literature Review 肢端间充质肿瘤导致骨软化症：病例报告及文献复习

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.12.013

Nick A. Kamkari BS, Ryan Chen BA, Isaac Bronson MS, Christopher Coyne MD

Objective/Background

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive secretion of fibroblast growth factor 23 (FGF-23) by phosphaturic mesenchymal tumors. This leads to hypophosphatemia, vitamin D deficiency, and impaired bone metabolism. TIO is often misdiagnosed due to its rarity and nonspecific symptoms.

Case Report

We report a 58-year-old male presenting with multiple nontraumatic fractures, muscle weakness, and functional decline. Laboratory evaluation revealed hypophosphatemia, elevated parathyroid hormone, reduced 1,25-dihydroxyvitamin D, and markedly elevated FGF-23 levels. Imaging identified a soft tissue mass in the plantar region of the right foot, which was confirmed as a phosphaturic mesenchymal tumor upon pathological analysis. The patient underwent surgical resection, resulting in rapid normalization of biochemical abnormalities, including serum phosphorus, parathyroid hormone, and 1,25-dihydroxyvitamin D, within 5 days.

Discussion

This case underscores the importance of recognizing TIO in patients with unexplained hypophosphatemia and fractures. The curative potential of tumor resection was demonstrated with rapid biochemical and clinical improvement. Diagnostic challenges often arise due to the rarity and atypical presentation of these tumors, particularly in uncommon locations such as the plantar region. Emerging therapies, such as FGF-23 inhibitors like burosumab, provide alternatives for nonlocalizable or unresectable tumors.

Conclusion

This case emphasizes the need for increased clinician awareness, multidisciplinary approaches, and advances in diagnostic imaging to reduce delays in diagnosing TIO. Further research is necessary to elucidate the pathophysiology, explore genetic associations, and improve treatment options for this debilitating condition.

目的/背景肿瘤诱导的骨软化症（TIO）是一种罕见的副肿瘤综合征，由成纤维细胞生长因子23 （FGF-23）的过度分泌引起。这会导致低磷血症、维生素D缺乏和骨代谢受损。由于其罕见和非特异性症状，TIO经常被误诊。病例报告我们报告一名58岁男性，表现为多处非创伤性骨折，肌肉无力和功能衰退。实验室评估显示低磷血症，甲状旁腺激素升高，1,25-二羟基维生素D降低，FGF-23水平明显升高。影像学发现右脚足底区软组织肿块，经病理分析证实为磷化间充质瘤。患者行手术切除，5天内血清磷、甲状旁腺激素、1,25-二羟基维生素D等生化异常迅速恢复正常。本病例强调了在不明原因的低磷血症和骨折患者中识别TIO的重要性。肿瘤切除的治疗潜力显示出快速的生化和临床改善。由于这些肿瘤的罕见性和非典型表现，特别是在不常见的部位，如足底区，常常出现诊断挑战。新兴疗法，如brosumab等FGF-23抑制剂，为不可定位或不可切除的肿瘤提供了替代方案。结论本病例强调需要提高临床医生的意识，采用多学科方法，并提高诊断影像学水平，以减少诊断TIO的延误。进一步的研究是必要的，以阐明病理生理学，探索遗传关联，并改善治疗方案的这种衰弱的条件。

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引用次数: 0

Insulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4 胰岛素瘤：多发性内分泌肿瘤的新表现

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-03-01 DOI: 10.1016/j.aace.2024.11.009

Hye Jeong Han DO , Jacob Moalem MD , Angela R. Shih MD , Benjamin J. Gigliotti MD

Background/Objective

Multiple endocrine neoplasia 4 (MEN4) is a rare syndrome caused by germline mutations in CKDN1B, and it shares clinical manifestations with MEN1, including primary hyperparathyroidism, pituitary adenomas, and pancreatic neuroendocrine tumors (NETs). The prevalence of MEN4 is <1 per million, whereas prevalence of MEN1 is between 1/10 000 and 1/30 000.

Case Report

A 51-year-old woman presented with symptomatic hypoglycemia and incidental hypercalcemia. Workup revealed a fasting plasma glucose level of 41 mg/dL (60-99 mg/dL), proinsulin level of 84.3 pmol/L (≤8.0 pmol/L), insulin level of 24 uIU/mL (3-25 uIU/mL), c-peptide level of 5.2 ng/mL (1.1-4.4 ng/mL), and β-hydroxybutyrate level of 0.34 mmol/L (0.02-0.27 mmol/L), consistent with endogenous hyperinsulinism. Computed tomography scan of the abdomen revealed a 1.5 × 1.1 × 1.0 cm pancreatic head nodule. She underwent pancreaticoduodenectomy, and pathology demonstrated a well-differentiated neuroendocrine tumor with no metastases. She became normoglycemic after surgery, and additional workup revealed primary hyperparathyroidism. Germline testing revealed a variant of unknown significance in CDKN1B (p.R93W).

Discussion

Both MEN1 and MEN4 result from decreased expression of p24 and exhibit similar clinical phenotypes, but there are subtle differences in penetrance and natural history. About 10% of patients with MEN1 have insulinomas, but no insulinomas have been reported in MEN4. primary hyperparathyroidism in MEN4 exhibits a lower risk of recurrence after parathyroidectomy. This case highlights the importance of germline genetic testing when a patient presents with manifestations of MEN1.

Conclusion

To our knowledge, this is the first reported case of insulinoma in MEN4.

背景/目的多发性内分泌肿瘤4 （multiple endocrine neoplasia 4, MEN4）是一种罕见的由CKDN1B种系突变引起的综合征，其临床表现与MEN1相似，包括原发性甲状旁腺功能亢进、垂体腺瘤、胰腺神经内分泌肿瘤（NETs）等。MEN4的流行率为百万分之一，而MEN1的流行率为1/ 10,000至1/ 30,000。病例报告：一名51岁女性，以症状性低血糖和偶发高钙血症表现。空腹血糖41 mg/dL (60 ~ 99 mg/dL)，胰岛素原水平84.3 pmol/L(≤8.0 pmol/L)，胰岛素水平24 uIU/mL (3 ~ 25 uIU/mL)， c肽水平5.2 ng/mL (1.1 ~ 4.4 ng/mL)， β-羟基丁酸水平0.34 mmol/L (0.02 ~ 0.27 mmol/L)，与内源性高胰岛素血症一致。腹部计算机断层扫描显示一个1.5 × 1.1 × 1.0 cm的胰腺头结节。患者行胰十二指肠切除术，病理证实为分化良好的神经内分泌肿瘤，无转移。术后血糖恢复正常，进一步检查发现原发性甲状旁腺功能亢进。种系检测显示CDKN1B （p.R93W）中存在一种未知意义的变异。MEN1和MEN4都是由于p24的表达减少而导致的，它们具有相似的临床表型，但在外显率和自然历史上存在细微差异。大约10%的MEN1患者有胰岛素瘤，但MEN4中没有胰岛素瘤的报道。MEN4原发性甲状旁腺功能亢进症在甲状旁腺切除术后复发的风险较低。本病例强调了当患者出现MEN1表现时，进行种系基因检测的重要性。结论据我们所知，这是MEN4中第一例胰岛素瘤的报道。

{"title":"Insulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4","authors":"Hye Jeong Han DO , Jacob Moalem MD , Angela R. Shih MD , Benjamin J. Gigliotti MD","doi":"10.1016/j.aace.2024.11.009","DOIUrl":"10.1016/j.aace.2024.11.009","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Multiple endocrine neoplasia 4 (MEN4) is a rare syndrome caused by germline mutations in CKDN1B, and it shares clinical manifestations with MEN1, including primary hyperparathyroidism, pituitary adenomas, and pancreatic neuroendocrine tumors (NETs). The prevalence of MEN4 is <1 per million, whereas prevalence of MEN1 is between 1/10 000 and 1/30 000.</div></div><div><h3>Case Report</h3><div>A 51-year-old woman presented with symptomatic hypoglycemia and incidental hypercalcemia. Workup revealed a fasting plasma glucose level of 41 mg/dL (60-99 mg/dL), proinsulin level of 84.3 pmol/L (≤8.0 pmol/L), insulin level of 24 uIU/mL (3-25 uIU/mL), c-peptide level of 5.2 ng/mL (1.1-4.4 ng/mL), and β-hydroxybutyrate level of 0.34 mmol/L (0.02-0.27 mmol/L), consistent with endogenous hyperinsulinism. Computed tomography scan of the abdomen revealed a 1.5 × 1.1 × 1.0 cm pancreatic head nodule. She underwent pancreaticoduodenectomy, and pathology demonstrated a well-differentiated neuroendocrine tumor with no metastases. She became normoglycemic after surgery, and additional workup revealed primary hyperparathyroidism. Germline testing revealed a variant of unknown significance in CDKN1B (p.R93W).</div></div><div><h3>Discussion</h3><div>Both MEN1 and MEN4 result from decreased expression of p24 and exhibit similar clinical phenotypes, but there are subtle differences in penetrance and natural history. About 10% of patients with MEN1 have insulinomas, but no insulinomas have been reported in MEN4. primary hyperparathyroidism in MEN4 exhibits a lower risk of recurrence after parathyroidectomy. This case highlights the importance of germline genetic testing when a patient presents with manifestations of MEN1.</div></div><div><h3>Conclusion</h3><div>To our knowledge, this is the first reported case of insulinoma in MEN4.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 93-97"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644056","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

Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response 醋酸Leuprolide和brosumab联合治疗x连锁低磷血症和性早熟：一种治疗反应。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.004

Gustavo Tempone Cardoso Penna MS , Carolina Costa Figueiredo MD, MSc , Nara Michelle de Araújo Evangelista MD, MSc , Vânia de Fátima Tonetto Fernandes MD, PhD , Patricia Salmona MD , Guido de Paula Colares Neto MD, PhD

Background/Objective

Individuals with X-linked hypophosphatemia (XLH) generally experience normal puberty. However, the prevalence of central precocious puberty (CPP) in patients with XLH seems to be similar to that of the general population, and CPP may similarly impact their predicted final height.

Case Report

A female patient was diagnosed with XLH at 3 years old and received regular calcitriol and sodium-potassium phosphate treatment until age six. During this period, she showed increased growth velocity and improved height Z-score (from −2.38 SD to −1.95 SD). At 6 years and 11 months, she was diagnosed with idiopathic CPP, marked by thelarche, a growth spurt, and advanced bone age, resulting in a decreased predicted final height Z-score. She began pubertal blockade with leuprolide acetate and transitioned from conventional XLH treatment to burosumab. The combination of these treatments led to stabilized bone age, normalized growth velocity, and improved final height prediction without side effects or negative impacts on bone health during treatment.

Discussion

Although the prevalence of CPP in XLH patients has not been extensively studied, CPP in XLH may affect final height and worsen rickets by increasing mineral demands during growth spurts. Thus, CPP can be treated in patients with XLH, who may have compromised height outcomes, using synthetic gonadotropin-releasing hormone analogs.

Conclusion

In the described XLH patient with CPP, the combined use of gonadotropin-releasing hormone analogs and burosumab was a safe strategy to stabilize pubertal progression and bone age, minimize anthropometric loss, and avoid exacerbating bone deformities.

背景/目的：x连锁低磷血症（XLH）患者通常经历正常的青春期。然而，中枢性性早熟（CPP）在XLH患者中的患病率似乎与一般人群相似，CPP可能同样影响他们的预测最终身高。病例报告：一名女性患者在3岁时被诊断为XLH，并接受常规骨化三醇和磷酸钠钾治疗直到6岁。在此期间，她的生长速度加快，身高z分数也有所提高（从-2.38 SD到-1.95 SD）。在6岁零11个月时，她被诊断为特发性CPP，以骨质疏松、生长突增和骨龄提前为特征，导致预测最终身高z分数下降。她开始使用醋酸leuprolide进行青春期阻断，并从传统的XLH治疗过渡到布罗单抗。这些治疗的组合导致稳定的骨龄，正常的生长速度，提高最终高度预测，在治疗期间没有副作用或对骨骼健康的负面影响。讨论：虽然在XLH患者中CPP的患病率尚未得到广泛的研究，但XLH患者的CPP可能会影响最终身高，并通过增加生长高峰期对矿物质的需求而使佝偻病恶化。因此，使用合成促性腺激素释放激素类似物可以治疗XLH患者的CPP，这些患者的身高可能受到损害。结论：在上述合并CPP的XLH患者中，促性腺激素释放激素类似物联合布罗单抗是一种安全的策略，可以稳定青春期发育和骨龄，减少人体测量损失，避免加剧骨畸形。

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引用次数: 0

Successful Multimodal Management of an Aggressive Functional Gonadotropic Pituitary Macroadenoma 侵袭性功能性促性腺激素大腺瘤的成功多模式治疗。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.003

Jeffrey J. Feng MS , Sophie M. Cannon MD , Stephanie K. Cheok MD , Mark S. Shiroishi MD , Kyle M. Hurth MD, PhD , Anna J. Mathew MD , Gabriel Zada MD , John D. Carmichael MD

Background/Objective

Although most gonadotroph cell–derived pituitary adenomas (PAs) give rise to nonfunctional PAs, hormonally active functional gonadotroph adenomas (FGAs) are exceedingly rare. We present a case of a giant and invasive functional gonadotropic pituitary macroadenoma treated with endoscopic transsphenoidal surgery and subsequent postoperative radiotherapy.

Case Report

A 54-year-old man presented with gradually worsening vision over 1 year. Magnetic resonance imaging demonstrated a 5.2-cm sellar and suprasellar mass with cavernous sinus invasion, mass effect on the optic chiasm, and extension into the sphenoid sinus, nasal cavity, and clivus. Preoperative workup was remarkable for erythrocytosis without sleep apnea and increased levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, and testosterone. Immunohistochemistry results following endoscopic transsphenoidal resection confirmed dominant staining for steroidogenic factor-1, FSH, and LH. Postoperatively, the patient’s FSH level decreased, whereas the LH level normalized within 1 week. The free testosterone level normalized at 9 months. The patient underwent radiotherapy for a small amount of residual tumor in the right cavernous sinus and has demonstrated no evidence of disease or hormonal progression.

Discussion

There is no consensus on FGA-specific management that differs from the management of nonfunctional PAs; surgery is recommended when vision is impacted. The invasive nature of the tumor presented in this case is rare and limited safe gross total resection, requiring adjuvant radiotherapy.

Conclusion

FGAs are rare, and those of similar size and extent of invasion as in our case are even more so. In addition to surgical resection, consideration of adjunct therapies including radiation and multidisciplinary physician involvement are vital in achieving clinical improvement and remission while preventing possible progression and recurrence.

背景/目的：虽然大多数促性腺细胞源性垂体腺瘤（PAs）产生非功能性PAs，但激素活性功能性促性腺腺瘤（FGAs）极为罕见。我们报告一例巨大的侵袭性功能性促性腺腺瘤，经内镜下蝶窦手术和术后放疗治疗。病例报告：一名54岁男性，视力逐渐恶化超过1年。磁共振成像显示一个5.2 cm鞍上肿块，侵犯海绵窦，肿块影响视交叉，并延伸到蝶窦、鼻腔和斜坡。术前检查有明显的红细胞增多，无睡眠呼吸暂停，促卵泡激素（FSH）、促黄体生成素（LH）、催乳素和睾酮水平升高。内镜下经蝶窦切除术后的免疫组织化学结果证实了类固醇生成因子-1、FSH和LH的显性染色。术后患者FSH水平下降，而LH水平在1周内恢复正常。游离睾酮水平在9个月时恢复正常。患者因右侧海绵窦少量残留肿瘤接受放射治疗，并无疾病或激素进展的证据。讨论：对于fga特异性管理与非功能性PAs管理的不同，目前尚无共识；当视力受到影响时，建议进行手术。本病例中肿瘤的侵袭性是罕见的，并且限制了安全的全切除，需要辅助放疗。结论：FGAs是罕见的，而与本病例侵袭大小和范围相似的FGAs更是罕见。除手术切除外，考虑辅助治疗，包括放疗和多学科医师参与，对于实现临床改善和缓解，同时防止可能的进展和复发至关重要。

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引用次数: 0