AACE Clinical Case Reports最新文献_第3页

Pituitary Stalk Interruption Syndrome: A Case and Literature Review 垂体柄中断综合征1例及文献复习。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.007

Anuja Choure MD , Leena Shahla MD

Background/Objective

Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder that is characterized by a triad including a thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and agenesis or dysgenesis of anterior lobe.

PSIS is typically diagnosed in childhood. The objective of this report is to describe a patient with PSIS whose diagnosis was missed until adulthood.

Case Report

A 42-year-old-female presented for evaluation of premature menopause, weight loss, and occasional dizziness. On examination she had short stature and absent secondary sexual features. Laboratory tests were consistent with hypopituitarism with follicle stimulating hormone 0.5 mIU/mL (16.7-113); luteinizing hormone 1.2 mIU/mL (10.8-58.6); prolactin 10.4 ng/mL (2.7-19.6); estradiol 20 pg/mL; cortisol 2 mcg/dL (6.7-22.6); adrenocorticotropic hormone 18 pg/mL (6-50); thyroid stimulating hormone 10.33 uIU/mL (0.28-3.8); free T4 0.41 ng/dL (0.58-1.64); insulin like growth factor-1 −3.7 SD (17 ng/mL) (52-328); and adrenocorticotropic hormone stimulation confirmed secondary adrenal insufficiency. The magnetic resonance imaging of the brain revealed an ectopic posterior pituitary with a partially empty sella, absence of the pituitary stalk, and a small anterior pituitary. The patient was initiated on replacement hormones with improvement in her symptoms.

Discussion

PSIS is a rare condition with uncertain pathogenesis and variable presentation requiring a high index of suspicion and presenting with multiple anterior pituitary hormone deficiencies. Diagnosis is confirmed by a dedicated pituitary magnetic resonance imaging, and treatment is tailored to the hormonal deficiency detected.

Conclusion

This case highlights the importance of early diagnosis of PSIS, which presents with multiple anterior pituitary hormonal deficiencies, but diagnosis can remain elusive unless dedicated brain imaging is performed.

背景/目的：垂体柄中断综合征（PSIS）是一种罕见的先天性疾病，其特征是垂体柄薄或中断，后叶缺失或异位，前叶发育不全或发育不良。PSIS通常在儿童时期被诊断出来。本报告的目的是描述一个病人的PSIS诊断错过了直到成年。病例报告：一名42岁女性，因过早绝经、体重减轻和偶尔头晕而就诊。经检查，她身材矮小，没有第二性征。实验室检查与垂体功能低下一致，促卵泡激素0.5 mIU/mL (16.7-113)；黄体生成素1.2 mIU/mL (10.8-58.6)；催乳素10.4 ng/mL (2.7 ~ 19.6)；雌二醇20 pg/mL；皮质醇2微克/分升（6.7-22.6）；促肾上腺皮质激素18 pg/mL (6-50)；促甲状腺激素10.33 uIU/mL (0.28-3.8)；游离T4 0.41 ng/dL (0.58 ~ 1.64)；胰岛素样生长因子-1 -3.7 SD (17 ng/mL) (52-328)；促肾上腺皮质激素刺激证实继发性肾上腺功能不全。脑磁共振成像显示垂体后叶异位，蝶鞍部分空，垂体柄缺失，垂体前叶小。患者开始使用替代激素，症状有所改善。讨论：PSIS是一种罕见的疾病，发病机制不确定，表现多变，需要高度怀疑，并表现为多发性垂体前叶激素缺乏。诊断是由专门的垂体磁共振成像证实，治疗是量身定制的激素缺乏检测。结论：该病例强调了早期诊断PSIS的重要性，PSIS表现为多发性垂体前叶激素缺乏，但除非进行专门的脑成像，否则诊断仍然难以确定。

{"title":"Pituitary Stalk Interruption Syndrome: A Case and Literature Review","authors":"Anuja Choure MD , Leena Shahla MD","doi":"10.1016/j.aace.2024.09.007","DOIUrl":"10.1016/j.aace.2024.09.007","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder that is characterized by a triad including a thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and agenesis or dysgenesis of anterior lobe.</div><div>PSIS is typically diagnosed in childhood. The objective of this report is to describe a patient with PSIS whose diagnosis was missed until adulthood.</div></div><div><h3>Case Report</h3><div>A 42-year-old-female presented for evaluation of premature menopause, weight loss, and occasional dizziness. On examination she had short stature and absent secondary sexual features. Laboratory tests were consistent with hypopituitarism with follicle stimulating hormone 0.5 mIU/mL (16.7-113); luteinizing hormone 1.2 mIU/mL (10.8-58.6); prolactin 10.4 ng/mL (2.7-19.6); estradiol 20 pg/mL; cortisol 2 mcg/dL (6.7-22.6); adrenocorticotropic hormone 18 pg/mL (6-50); thyroid stimulating hormone 10.33 uIU/mL (0.28-3.8); free T4 0.41 ng/dL (0.58-1.64); insulin like growth factor-1 −3.7 SD (17 ng/mL) (52-328); and adrenocorticotropic hormone stimulation confirmed secondary adrenal insufficiency. The magnetic resonance imaging of the brain revealed an ectopic posterior pituitary with a partially empty sella, absence of the pituitary stalk, and a small anterior pituitary. The patient was initiated on replacement hormones with improvement in her symptoms.</div></div><div><h3>Discussion</h3><div>PSIS is a rare condition with uncertain pathogenesis and variable presentation requiring a high index of suspicion and presenting with multiple anterior pituitary hormone deficiencies. Diagnosis is confirmed by a dedicated pituitary magnetic resonance imaging, and treatment is tailored to the hormonal deficiency detected.</div></div><div><h3>Conclusion</h3><div>This case highlights the importance of early diagnosis of PSIS, which presents with multiple anterior pituitary hormonal deficiencies, but diagnosis can remain elusive unless dedicated brain imaging is performed.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 29-31"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078430","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

Finding the Culprit: Cushing Syndrome Secondary to Lung Carcinoid Tumor 寻找罪魁祸首：继发于类肺癌的库欣综合征。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.002

Richard Vaca MD , Nirali A. Shah MD

Background/Objective

Cushing syndrome resulting from ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is a rare condition, and its occurrence in adolescents is even more uncommon, representing <1% of cases. We describe a case of EAS from a lung carcinoid tumor leading to Cushing syndrome in a young woman, which was successfully treated with excision of the tumor.

Case Report

An 18-year-old woman presented with mood disturbances, weight gain, and fatigue for 6 months. Workup revealed high levels of urinary free cortisol (>900 μg/dL; normal range, <45 μg/dL) and midnight salivary cortisol (0.755 μg/dL; normal range, <0.09 μg/dL). The ACTH and cortisol levels remained elevated after a low-dose dexamethasone suppression test. Magnetic resonance imaging of the pituitary gland did not reveal any adenoma and inferior petrosal sinus sampling showed no central-to-peripheral gradient. A diagnosis of EAS was made. Subsequent body imaging noted a 1-cm lung nodule. Due to symptoms of severe hypercortisolism including hypokalemia and worsening mood changes, the patient was started on metyrapone as a bridge to surgery. A few weeks later, the patient underwent successful surgical resection, after which symptoms promptly resolved. Pathology report later confirmed an atypical lung carcinoid tumor. The patient remained in remission at 1-year follow-up.

Discussion

Medical therapy aids in managing severe hypercortisolism in ACTH-secreting tumors until definitive surgical treatment can be undertaken.

Conclusion

This case underscores the critical importance of promptly recognizing EAS and the resulting severe hypercortisolism symptoms because early surgical intervention can lead to a cure.

背景/目的：由促肾上腺皮质激素（ACTH）异位分泌（EAS）引起的库欣综合征是一种罕见的疾病，在青少年中发生更为罕见，代表病例报告：一名18岁女性，表现为情绪障碍，体重增加和疲劳6个月。检查显示尿中游离皮质醇水平高(约900 μg/dL；讨论：药物治疗有助于控制acth分泌肿瘤的严重高皮质醇症，直到可以进行明确的手术治疗。结论：本病例强调了及时识别EAS及其导致的严重高皮质醇血症症状的重要性，因为早期手术干预可以治愈。

{"title":"Finding the Culprit: Cushing Syndrome Secondary to Lung Carcinoid Tumor","authors":"Richard Vaca MD , Nirali A. Shah MD","doi":"10.1016/j.aace.2024.09.002","DOIUrl":"10.1016/j.aace.2024.09.002","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Cushing syndrome resulting from ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is a rare condition, and its occurrence in adolescents is even more uncommon, representing <1% of cases. We describe a case of EAS from a lung carcinoid tumor leading to Cushing syndrome in a young woman, which was successfully treated with excision of the tumor.</div></div><div><h3>Case Report</h3><div>An 18-year-old woman presented with mood disturbances, weight gain, and fatigue for 6 months. Workup revealed high levels of urinary free cortisol (>900 μg/dL; normal range, <45 μg/dL) and midnight salivary cortisol (0.755 μg/dL; normal range, <0.09 μg/dL). The ACTH and cortisol levels remained elevated after a low-dose dexamethasone suppression test. Magnetic resonance imaging of the pituitary gland did not reveal any adenoma and inferior petrosal sinus sampling showed no central-to-peripheral gradient. A diagnosis of EAS was made. Subsequent body imaging noted a 1-cm lung nodule. Due to symptoms of severe hypercortisolism including hypokalemia and worsening mood changes, the patient was started on metyrapone as a bridge to surgery. A few weeks later, the patient underwent successful surgical resection, after which symptoms promptly resolved. Pathology report later confirmed an atypical lung carcinoid tumor. The patient remained in remission at 1-year follow-up.</div></div><div><h3>Discussion</h3><div>Medical therapy aids in managing severe hypercortisolism in ACTH-secreting tumors until definitive surgical treatment can be undertaken.</div></div><div><h3>Conclusion</h3><div>This case underscores the critical importance of promptly recognizing EAS and the resulting severe hypercortisolism symptoms because early surgical intervention can lead to a cure.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 10-13"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078418","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

Micronutrient Deficiency and Wernicke’s Encephalopathy in the Setting of Over the Counter Transcutaneous Multivitamin Patch Use Following Bariatric Surgery 减肥手术后非处方经皮复合维生素贴片使用的微量营养素缺乏和韦尼克脑病。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.10.001

Hisham Mohammed Babu MBBS, Andrew J. Spiro MD, Thanh D. Hoang DO, Mohamed K.M. Shakir MD

Background/Objective

Thiamine deficiency, which may occur following bariatric surgery, can lead to the development of Wernicke’s encephalopathy (WE). This case report describes a patient developing WE postbariatric surgery, due to the use of over-the-counter transcutaneous multivitamin patch rather than recommended vitamin tablets.

Case Report

A 61-year-old female presented with 45 pounds of weight gain over the past year with a body mass index of 39.58 kg/m². She underwent lifestyle modification and treatment with dulaglutide with limited success. After evaluation and counseling, the patient underwent Roux-en-Y gastric bypass surgery and was prescribed thiamine, cholecalciferol, vitamin B12, and multivitamin tablets postoperatively. Eight months later, she presented to the emergency room with confusion, bilateral lower extremity weakness, paresthesia, and ataxia. Neurological examination revealed disorientation, nystagmus, and bilateral lateral rectus palsies. She reported using transcutaneous multivitamin patches instead of the recommended oral supplementation. The clinical features, low serum thiamine level of 1.28 μg/dL (reference 2.5–7.5 μg/dL), and resolution of symptoms following supplementation confirmed the diagnosis of WE.

Discussion

Obesity often predisposes individuals to multiple nutritional deficiencies. It is critical that these patients take adequate vitamin supplementation before and after bariatric surgery. Thiamine deficiency can present as WE due to inappropriate supplementation such as use of a transcutaneous patch as seen in our patient.

Conclusion

Adequate nutritional counseling and supplementation before and after bariatric surgery is required to prevent complications. Transcutaneous patch as a mode of multivitamin supplementation is questionable in its current state and should be avoided.

背景/目的：减肥手术后可能发生的硫胺素缺乏可导致韦尼克脑病（WE）的发展。本病例报告描述了一位患者在减肥手术后发生WE，由于使用非处方经皮复合维生素贴片而不是推荐的维生素片。病例报告：61岁女性，过去一年体重增加45磅，体重指数39.58 kg/m2。她接受了生活方式的改变和杜拉鲁肽的治疗，但收效甚微。经评估和咨询，患者行Roux-en-Y胃旁路手术，术后开硫胺素、胆骨化醇、维生素B12和多种维生素片。8个月后，她以精神错乱、双侧下肢无力、感觉异常和共济失调等症状来到急诊室。神经学检查显示定向障碍、眼球震颤和双侧侧直肌麻痹。她报告使用经皮复合维生素贴片代替推荐的口服补充剂。临床表现、血清硫胺素水平低至1.28 μg/dL（参考文献2.5-7.5 μg/dL）、补充后症状缓解，证实了WE的诊断。讨论：肥胖往往使人容易出现多种营养缺乏。这些患者在减肥手术前后补充足够的维生素是至关重要的。由于不适当的补充，如使用经皮贴片，硫胺素缺乏症可以表现为WE，正如我们的病人所见。结论：在减肥手术前后进行适当的营养咨询和补充是预防并发症的必要措施。经皮贴片作为一种补充多种维生素的方式在其目前的状态是值得怀疑的，应该避免。

{"title":"Micronutrient Deficiency and Wernicke’s Encephalopathy in the Setting of Over the Counter Transcutaneous Multivitamin Patch Use Following Bariatric Surgery","authors":"Hisham Mohammed Babu MBBS, Andrew J. Spiro MD, Thanh D. Hoang DO, Mohamed K.M. Shakir MD","doi":"10.1016/j.aace.2024.10.001","DOIUrl":"10.1016/j.aace.2024.10.001","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Thiamine deficiency, which may occur following bariatric surgery, can lead to the development of Wernicke’s encephalopathy (WE). This case report describes a patient developing WE postbariatric surgery, due to the use of over-the-counter transcutaneous multivitamin patch rather than recommended vitamin tablets.</div></div><div><h3>Case Report</h3><div>A 61-year-old female presented with 45 pounds of weight gain over the past year with a body mass index of 39.58 kg/m<sup>2</sup>. She underwent lifestyle modification and treatment with dulaglutide with limited success. After evaluation and counseling, the patient underwent Roux-en-Y gastric bypass surgery and was prescribed thiamine, cholecalciferol, vitamin B12, and multivitamin tablets postoperatively. Eight months later, she presented to the emergency room with confusion, bilateral lower extremity weakness, paresthesia, and ataxia. Neurological examination revealed disorientation, nystagmus, and bilateral lateral rectus palsies. She reported using transcutaneous multivitamin patches instead of the recommended oral supplementation. The clinical features, low serum thiamine level of 1.28 μg/dL (reference 2.5–7.5 μg/dL), and resolution of symptoms following supplementation confirmed the diagnosis of WE.</div></div><div><h3>Discussion</h3><div>Obesity often predisposes individuals to multiple nutritional deficiencies. It is critical that these patients take adequate vitamin supplementation before and after bariatric surgery. Thiamine deficiency can present as WE due to inappropriate supplementation such as use of a transcutaneous patch as seen in our patient.</div></div><div><h3>Conclusion</h3><div>Adequate nutritional counseling and supplementation before and after bariatric surgery is required to prevent complications. Transcutaneous patch as a mode of multivitamin supplementation is questionable in its current state and should be avoided.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 36-39"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078425","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

Should Methoxytyramine Routinely Be Included in the Guidelines for Biochemical Assessment of Pheochromocytomas and Paragangliomas? 甲氧基酪胺应该常规纳入嗜铬细胞瘤和副神经节瘤的生化评估指南吗？

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.11.005

Ann T. Sweeney MD, Michael A. Blake MB, BCh, Sina Jasim MD, MPH, Karel Pacak MD, PhD, DSc

引用次数: 0

Tongue Bumps as a Manifestation of Underlying Endocrine Neoplasia 舌肿块是潜在内分泌肿瘤的一种表现。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.005

Mona Vahidi Rad MD , Austin DeHart MD , Aditi Kumar MBBS , Pablo Angulo DO , Anna Sandstrom MD , Robert Gonsalves DO

引用次数: 0

Hypogonadism in a Man With Cystic Fibrosis and an Unusually Low Serum Testosterone: A Cautionary Tale 囊性纤维化和血清睾酮异常低的男性性腺功能减退：一个警世故事。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.008

Khemaporn Lertdetkajorn MD , Crystal Cobb DO , Rebecca J. Kapolka MD , William R. Hunt MD , Vin Tangpricha MD, PhD

Background/Objective

Men with cystic fibrosis (CF) have a high prevalence of low testosterone levels. A recent retrospective study demonstrated a quarter of a cohort of men with CF had serum testosterone levels below 300 ng/dL. The evaluation of hypogonadism is of increasing clinical importance in order to prevent unfavorable outcomes. Herein we present a 31-year-old man with CF and a relatively low serum testosterone value who was found to have an additional unsuspected cause of male hypogonadism.

Case Report

The patient was a 31-year-old man with history of CF who was referred to endocrinology clinic for the evaluation of hypogonadism. Serum testing revealed a total testosterone of 175 ng/mL (296-1377), luteinizing hormone 2.8 mIU/mL (1.2-8.6), and a prolactin of 341 ng/mL (3-13). A brain magnetic resonance imaging was obtained, which revealed a 1 cm hypoenhancing left sellar lesion. He was started on cabergoline. His testosterone increased to 707 ng/dL after a year on cabergoline treatment. His prolactin decreased to 12 ng/mL after a year of treatment. The pituitary adenoma decreased 50% in size 2 years after cabergoline was initiated.

Discussion

The most common etiologies of CF are recurrent infections, chronic inflammation, and glucocorticoid administration, which lead to both hypothalamic-pituitary dysregulation and primary hypogonadism. However, other less common causes of hypogonadism can also be found in CF.

Conclusion

We suggest that all men with cystic fibrosis found to have hypogonadism undergo additional evaluation for causes of hypogonadism prior to treatment with testosterone.

背景/目的：囊性纤维化（CF）患者睾酮水平低的患病率很高。最近的一项回顾性研究表明，四分之一的CF患者血清睾酮水平低于300 ng/dL。评估性腺功能减退症是越来越重要的临床，以防止不良后果。在这里，我们提出了一个31岁的男性CF和相对较低的血清睾酮值谁被发现有一个额外的男性性腺功能减退症的未知原因。病例报告：患者为31岁男性，既往有CF病史，因性腺功能减退被转介至内分泌科门诊。血清检测显示总睾酮175 ng/mL(296-1377)，促黄体生成素2.8 mIU/mL(1.2-8.6)，催乳素341 ng/mL（3-13）。脑磁共振成像显示左鞍区1厘米低增强病灶。他开始服用卡麦角林。卡麦角林治疗一年后，他的睾酮水平上升至707 ng/dL。治疗1年后催乳素降至12 ng/mL。卡麦角林治疗2年后垂体腺瘤体积减小50%。讨论：CF最常见的病因是反复感染、慢性炎症和糖皮质激素的使用，这导致下丘脑-垂体失调和原发性性腺功能减退。然而，其他不常见的性腺功能减退的原因也可以在cf中发现。结论：我们建议所有患有囊性纤维化的男性发现有性腺功能减退，在使用睾酮治疗之前，对性腺功能减退的原因进行额外的评估。

{"title":"Hypogonadism in a Man With Cystic Fibrosis and an Unusually Low Serum Testosterone: A Cautionary Tale","authors":"Khemaporn Lertdetkajorn MD , Crystal Cobb DO , Rebecca J. Kapolka MD , William R. Hunt MD , Vin Tangpricha MD, PhD","doi":"10.1016/j.aace.2024.09.008","DOIUrl":"10.1016/j.aace.2024.09.008","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Men with cystic fibrosis (CF) have a high prevalence of low testosterone levels. A recent retrospective study demonstrated a quarter of a cohort of men with CF had serum testosterone levels below 300 ng/dL. The evaluation of hypogonadism is of increasing clinical importance in order to prevent unfavorable outcomes. Herein we present a 31-year-old man with CF and a relatively low serum testosterone value who was found to have an additional unsuspected cause of male hypogonadism.</div></div><div><h3>Case Report</h3><div>The patient was a 31-year-old man with history of CF who was referred to endocrinology clinic for the evaluation of hypogonadism. Serum testing revealed a total testosterone of 175 ng/mL (296-1377), luteinizing hormone 2.8 mIU/mL (1.2-8.6), and a prolactin of 341 ng/mL (3-13). A brain magnetic resonance imaging was obtained, which revealed a 1 cm hypoenhancing left sellar lesion. He was started on cabergoline. His testosterone increased to 707 ng/dL after a year on cabergoline treatment. His prolactin decreased to 12 ng/mL after a year of treatment. The pituitary adenoma decreased 50% in size 2 years after cabergoline was initiated.</div></div><div><h3>Discussion</h3><div>The most common etiologies of CF are recurrent infections, chronic inflammation, and glucocorticoid administration, which lead to both hypothalamic-pituitary dysregulation and primary hypogonadism. However, other less common causes of hypogonadism can also be found in CF.</div></div><div><h3>Conclusion</h3><div>We suggest that all men with cystic fibrosis found to have hypogonadism undergo additional evaluation for causes of hypogonadism prior to treatment with testosterone.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 32-35"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078421","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

Swelling of the Right Arm During a Nuclear Medicine Therapy for Metastatic Pheochromocytoma 转移性嗜铬细胞瘤核医学治疗中右臂肿胀。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.11.003

Run Yu MD, PhD , Linda Gardner BSN , Zachary Ells BS , Magnus Dahlbom PhD , Ali Salavati MD, MPH , Shadfar Bahri MD

引用次数: 0

Two Cases of Composite Pheochromocytoma-Ganglioneuromas With Plasma Metanephrine Levels in the Subclinical Range Pheochromocytoma-Ganglioneuroma 伴血浆肾上腺素水平增高的嗜铬细胞-神经节神经瘤2例。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.10.003

Mayssam El Najjar MD , Elie Naous MD , Caroline Blake , Aysegul Bulut MD , Alexander Perepletchikov MD , Ann T. Sweeney MD

Background/Objective

In <10% of cases, pheochromocytomas coexist with other tumors, most commonly ganglioneuromas, and are termed composite pheochromocytoma-ganglioneuromas. We present 2 cases of composite pheochromocytoma-ganglioneuromas and review the diagnosis and management of these rare tumors.

Case Report

Patient 1 and patient 2 were 35-year-old and 45-year-old woman, respectively. Patient 1 presented with a history of controlled hypertension and symptoms of anxiety along with palpitations, diaphoresis, and flushing. Patient 2 complained of abdominal pain and underwent abdominal computed tomography (CT) imaging. Patient 1 and patient 2 had metanephrine levels of 76 pg/mL and 61 pg/mL (normal <57 pg/mL), respectively, and normetanephrine levels of 161 pg/mL and 116 pg/mL (normal < 148 pg/mL), respectively. CT scans depicted right adrenal masses in both cases: patient 1 had a 2.3 × 2.6 cm mass measuring 36 Hounsfield units on noncontrast CT imaging and patient 2 had a 4.5 × 3.5 cm right adrenal mass measuring 73 Hounsfield units on contrast CT imaging. Both patients underwent laparoscopic robotic adrenalectomies without complications. The pathologic analyses of both cases revealed composite pheochromocytoma-ganglioneuroma tumors. Surveillance at 1 year in both patients demonstrated no evidence of recurrence.

Discussion

The clinical and radiological presentation of composite pheochromocytoma-ganglioneuromas mirrors pheochromocytomas. The diagnosis relies on histopathological analysis. Treatment of pheochromocytoma-ganglioneuromas is complete surgical excision in a high-volume center with adrenal expertise and is associated with an overall excellent prognosis. The probability of recurrence is low, and distant metastases have rarely been reported.

Conclusion

Pheochromocytoma-ganglioneuromas may present with plasma metanephrine levels in the subclinical range. As with isolated pheochromocytomas, lifetime surveillance is critical for composite pheochromocytoma-ganglioneuromas.

背景/目的：病例报告：患者1和患者2分别为35岁和45岁的女性。患者1有高血压控制史，焦虑症状伴心悸、出汗和潮红。患者2主诉腹痛，行腹部计算机断层扫描（CT）。患者1和患者2的肾上腺素水平分别为76 pg/mL和61 pg/mL（正常）。讨论：嗜铬细胞瘤-神经节神经瘤的临床和影像学表现反映了嗜铬细胞瘤。诊断依赖于组织病理学分析。嗜铬细胞-神经节神经瘤的治疗是在肾上腺专业的高容量中心进行完全手术切除，总体预后良好。复发率低，远端转移很少报道。结论：嗜铬细胞-神经节神经瘤可能在亚临床范围内存在血浆肾上腺素水平。与分离的嗜铬细胞瘤一样，终生监测对复合嗜铬细胞瘤-神经节神经瘤至关重要。

{"title":"Two Cases of Composite Pheochromocytoma-Ganglioneuromas With Plasma Metanephrine Levels in the Subclinical Range Pheochromocytoma-Ganglioneuroma","authors":"Mayssam El Najjar MD , Elie Naous MD , Caroline Blake , Aysegul Bulut MD , Alexander Perepletchikov MD , Ann T. Sweeney MD","doi":"10.1016/j.aace.2024.10.003","DOIUrl":"10.1016/j.aace.2024.10.003","url":null,"abstract":"<div><h3>Background/Objective</h3><div>In <10% of cases, pheochromocytomas coexist with other tumors, most commonly ganglioneuromas, and are termed composite pheochromocytoma-ganglioneuromas. We present 2 cases of composite pheochromocytoma-ganglioneuromas and review the diagnosis and management of these rare tumors.</div></div><div><h3>Case Report</h3><div>Patient 1 and patient 2 were 35-year-old and 45-year-old woman, respectively. Patient 1 presented with a history of controlled hypertension and symptoms of anxiety along with palpitations, diaphoresis, and flushing. Patient 2 complained of abdominal pain and underwent abdominal computed tomography (CT) imaging. Patient 1 and patient 2 had metanephrine levels of 76 pg/mL and 61 pg/mL (normal <57 pg/mL), respectively, and normetanephrine levels of 161 pg/mL and 116 pg/mL (normal < 148 pg/mL), respectively. CT scans depicted right adrenal masses in both cases: patient 1 had a 2.3 × 2.6 cm mass measuring 36 Hounsfield units on noncontrast CT imaging and patient 2 had a 4.5 × 3.5 cm right adrenal mass measuring 73 Hounsfield units on contrast CT imaging. Both patients underwent laparoscopic robotic adrenalectomies without complications. The pathologic analyses of both cases revealed composite pheochromocytoma-ganglioneuroma tumors. Surveillance at 1 year in both patients demonstrated no evidence of recurrence.</div></div><div><h3>Discussion</h3><div>The clinical and radiological presentation of composite pheochromocytoma-ganglioneuromas mirrors pheochromocytomas. The diagnosis relies on histopathological analysis. Treatment of pheochromocytoma-ganglioneuromas is complete surgical excision in a high-volume center with adrenal expertise and is associated with an overall excellent prognosis. The probability of recurrence is low, and distant metastases have rarely been reported.</div></div><div><h3>Conclusion</h3><div>Pheochromocytoma-ganglioneuromas may present with plasma metanephrine levels in the subclinical range. As with isolated pheochromocytomas, lifetime surveillance is critical for composite pheochromocytoma-ganglioneuromas.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 45-48"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078360","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

Alpelisib-Induced Diabetic Ketoacidosis and Insulin-Resistant Hyperglycemia alpelisib诱导的糖尿病酮症酸中毒和胰岛素抵抗性高血糖。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.10.002

Michael Loke DO , Vishal Sehgal MD , Niraj Gupta MD

Background/Objective

Alpelisib is a phosphatidylinositol 3-kinase inhibitor used to treat certain hormone therapy resistant breast cancers that can cause hyperglycemia through inhibition of the insulin signaling cascade. Diabetic ketoacidosis with the initiation of alpelisib remains a rare complication. The objective of this report is to describe a patient with alpelisib-induced diabetic ketoacidosis and the difficulties of management.

Case Report

A 59-year-old woman was admitted to the hospital with a history of noninsulin dependent type 2 diabetes on metformin presented with diabetic ketoacidosis. One month prior to this hospitalization, the patient was started on alpelisib. On presentation, blood glucose level was 612 mg/dL and hemoglobin A1c level was 11.9% (107 mmol/mol), a 4.6% (27 mmol/mol) increase from 2 months prior. The patient was started on intravenous insulin and alpelisib was held resulting in rapid resolution of the patient’s hyperglycemia and ketoacidosis. However, with reinitiation of alpelisib the patient developed worsening hyperglycemia. Relative glycemic control was ultimately obtained with 3 oral agents and high doses of insulin.

Discussion

Direct inhibition of insulin signaling by alpelisib leads to insulin-resistant hyperglycemia. Most cases can be controlled with oral agents; however, insulin therapy is required in rare instances. Although more effective for glycemic control, insulin therapy has the potential to decrease the antitumor effects of alpelisib.

Conclusion

Diabetic ketoacidosis is a rare complication of alpelisib initiation, which is quickly resolved with cessation of the agent. For patients where cessation is not an option, insulin and insulin sensitizing agents can be used to achieve glycemic control at the potential detriment of tumor treatment.

背景/目的：Alpelisib是一种磷脂酰肌醇3激酶抑制剂，用于治疗某些激素治疗抵抗性乳腺癌，这些乳腺癌可通过抑制胰岛素信号级联引起高血糖。糖尿病酮症酸中毒的起始alpelisib仍然是一个罕见的并发症。本报告的目的是描述一个病人与alpelisib诱导的糖尿病酮症酸中毒和管理的困难。病例报告：一名59岁的女性因二甲双胍非胰岛素依赖型2型糖尿病病史入院，并表现为糖尿病酮症酸中毒。在此住院治疗前一个月，患者开始使用alpelisib。入院时，血糖水平为612 mg/dL，血红蛋白A1c水平为11.9% (107 mmol/mol)，比2个月前增加4.6% （27 mmol/mol）。患者开始静脉注射胰岛素，并给予alpelisib，导致患者的高血糖和酮症酸中毒迅速消退。然而，随着alpelisib的重新开始，患者出现了恶化的高血糖。3种口服药物和高剂量胰岛素最终获得相对血糖控制。讨论：alpelisib直接抑制胰岛素信号传导导致胰岛素抵抗性高血糖。大多数病例可通过口服药物加以控制；然而，在极少数情况下需要胰岛素治疗。虽然胰岛素治疗对血糖控制更有效，但有可能降低alpelisib的抗肿瘤作用。结论：糖尿病酮症酸中毒是一种罕见的并发症，停药后可迅速解决。对于无法戒烟的患者，可以使用胰岛素和胰岛素增敏剂来实现血糖控制，但可能会损害肿瘤治疗。

{"title":"Alpelisib-Induced Diabetic Ketoacidosis and Insulin-Resistant Hyperglycemia","authors":"Michael Loke DO , Vishal Sehgal MD , Niraj Gupta MD","doi":"10.1016/j.aace.2024.10.002","DOIUrl":"10.1016/j.aace.2024.10.002","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Alpelisib is a phosphatidylinositol 3-kinase inhibitor used to treat certain hormone therapy resistant breast cancers that can cause hyperglycemia through inhibition of the insulin signaling cascade. Diabetic ketoacidosis with the initiation of alpelisib remains a rare complication. The objective of this report is to describe a patient with alpelisib-induced diabetic ketoacidosis and the difficulties of management.</div></div><div><h3>Case Report</h3><div>A 59-year-old woman was admitted to the hospital with a history of noninsulin dependent type 2 diabetes on metformin presented with diabetic ketoacidosis. One month prior to this hospitalization, the patient was started on alpelisib. On presentation, blood glucose level was 612 mg/dL and hemoglobin A1c level was 11.9% (107 mmol/mol), a 4.6% (27 mmol/mol) increase from 2 months prior. The patient was started on intravenous insulin and alpelisib was held resulting in rapid resolution of the patient’s hyperglycemia and ketoacidosis. However, with reinitiation of alpelisib the patient developed worsening hyperglycemia. Relative glycemic control was ultimately obtained with 3 oral agents and high doses of insulin.</div></div><div><h3>Discussion</h3><div>Direct inhibition of insulin signaling by alpelisib leads to insulin-resistant hyperglycemia. Most cases can be controlled with oral agents; however, insulin therapy is required in rare instances. Although more effective for glycemic control, insulin therapy has the potential to decrease the antitumor effects of alpelisib.</div></div><div><h3>Conclusion</h3><div>Diabetic ketoacidosis is a rare complication of alpelisib initiation, which is quickly resolved with cessation of the agent. For patients where cessation is not an option, insulin and insulin sensitizing agents can be used to achieve glycemic control at the potential detriment of tumor treatment.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 40-44"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078395","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

Euglycemic Diabetic Ketoacidosis in a Pregnant Patient on Insulin Pump Therapy 胰岛素泵治疗的妊娠糖尿病酮症酸中毒1例。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.10.004

Hesham Yasin MD , Jordan D. Ross MD , James Turner MD , Samuel Dagogo-Jack MD, DSc

Background/Objective

Diabetic ketoacidosis is a common endocrine emergency. A subset of patients present with euglycemic diabetic ketoacidosis, which may be diagnosed late due to its rarity and relatively lower blood glucose levels. Pregnancy is associated with euglycemic diabetic ketoacidosis, which can lead to maternal and fetal demise without prompt treatment. The objective of this case report is to describe a patient with type 1 diabetes mellitus who developed euglycemic diabetic ketoacidosis on insulin pump therapy during pregnancy.

Case Report

A 30-year-old pregnant patient at 33 weeks of gestation with type 1 diabetes mellitus on continuous subcutaneous insulin infusion presented to the emergency department with vomiting. Her serum bicarbonate of 9 mmol/L was accompanied by serum glucose of 130 mg/dL, moderate blood ketones, and urine ketones 80 mg/dL (large). She was treated with intravenous insulin infusion without complications to herself or the fetus.

Discussion

Pregnancy is a common background for euglycemic diabetic ketoacidosis and can lead to maternal and fetal demise if not addressed early. Despite insulin resistance in pregnancy, a relatively low blood glucose is maintained by increased glycogen storage and increased fetoplacental uptake. Altered acid-base physiology in pregnancy may also increase the propensity for euglycemic diabetic ketoacidosis.

Conclusion

Diabetic ketoacidosis can present in pregnancy with euglycemia, and a high index of suspicion is needed by both patients and health care teams. There are a few reports on this phenomenon in a pregnant patient using an insulin pump. Early identification and treatment are important to prevent maternal and fetal complications.

背景/目的：糖尿病酮症酸中毒是一种常见的内分泌急症。一部分患者表现为血糖正常的糖尿病酮症酸中毒，由于其罕见和相对较低的血糖水平，可能诊断较晚。妊娠与血糖正常的糖尿病酮症酸中毒有关，如果不及时治疗，可导致产妇和胎儿死亡。本病例报告的目的是描述1型糖尿病患者在妊娠期间胰岛素泵治疗后发生血糖正常的糖尿病酮症酸中毒。病例报告：一例30岁妊娠33周伴有1型糖尿病持续皮下注射胰岛素的患者因呕吐而就诊于急诊科。血清碳酸氢盐9 mmol/L，血清葡萄糖130 mg/dL，血酮中等，尿酮80 mg/dL（大）。她接受了胰岛素静脉输注治疗，没有给自己和胎儿带来并发症。讨论：妊娠是正常血糖型糖尿病酮症酸中毒的常见背景，如果不及早处理，可导致孕产妇和胎儿死亡。尽管妊娠期胰岛素抵抗，通过增加糖原储存和增加胎儿胎盘摄取来维持相对较低的血糖。妊娠期酸碱生理的改变也可能增加糖尿病酮症酸中毒的倾向。结论：糖尿病酮症酸中毒可出现在妊娠伴高血糖期，患者及医护人员均需高度警惕。有一些关于使用胰岛素泵的孕妇出现这种现象的报道。早期识别和治疗对于预防母胎并发症非常重要。

{"title":"Euglycemic Diabetic Ketoacidosis in a Pregnant Patient on Insulin Pump Therapy","authors":"Hesham Yasin MD , Jordan D. Ross MD , James Turner MD , Samuel Dagogo-Jack MD, DSc","doi":"10.1016/j.aace.2024.10.004","DOIUrl":"10.1016/j.aace.2024.10.004","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Diabetic ketoacidosis is a common endocrine emergency. A subset of patients present with euglycemic diabetic ketoacidosis, which may be diagnosed late due to its rarity and relatively lower blood glucose levels. Pregnancy is associated with euglycemic diabetic ketoacidosis, which can lead to maternal and fetal demise without prompt treatment. The objective of this case report is to describe a patient with type 1 diabetes mellitus who developed euglycemic diabetic ketoacidosis on insulin pump therapy during pregnancy.</div></div><div><h3>Case Report</h3><div>A 30-year-old pregnant patient at 33 weeks of gestation with type 1 diabetes mellitus on continuous subcutaneous insulin infusion presented to the emergency department with vomiting. Her serum bicarbonate of 9 mmol/L was accompanied by serum glucose of 130 mg/dL, moderate blood ketones, and urine ketones 80 mg/dL (large). She was treated with intravenous insulin infusion without complications to herself or the fetus.</div></div><div><h3>Discussion</h3><div>Pregnancy is a common background for euglycemic diabetic ketoacidosis and can lead to maternal and fetal demise if not addressed early. Despite insulin resistance in pregnancy, a relatively low blood glucose is maintained by increased glycogen storage and increased fetoplacental uptake. Altered acid-base physiology in pregnancy may also increase the propensity for euglycemic diabetic ketoacidosis.</div></div><div><h3>Conclusion</h3><div>Diabetic ketoacidosis can present in pregnancy with euglycemia, and a high index of suspicion is needed by both patients and health care teams. There are a few reports on this phenomenon in a pregnant patient using an insulin pump. Early identification and treatment are important to prevent maternal and fetal complications.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 49-52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078415","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