JCEM Case Reports最新文献

{"title":"Resolution of Extensive Xanthomas Associated With Severe Hypertriglyceridemia via Modified Therapeutic Plasma Exchange","authors":"Bandari K Aljabri, Wafa Saber, Saud Alzahrani, Ashraf Dada","doi":"10.1210/jcemcr/luae054","DOIUrl":"https://doi.org/10.1210/jcemcr/luae054","url":null,"abstract":"Abstract Severe hypertriglyceridemia can be manifested by xanthomas. Therapeutic plasma exchange (TPE) is an invasive medical procedure that has been documented as a viable approach for severe hypertriglyceridemia when cases would be refractory to conventional therapies. TPE is mainly an optional therapeutic modality for cases of severe acute pancreatitis or preventing the recurrence of pancreatitis. Beyond this clinical application, data are scarce on TPE utilization in managing cutaneous lesions associated with hypertriglyceridemia. We present a case of severe hypertriglyceridemia accompanied by extensive xanthomas of various types and a history of recurrent pancreatitis. After conventional therapy failed, a modified plasmapheresis regimen was used and was able to achieve a fast and marked reduction in the patient’s serum triglyceride levels with complete resolution of the extensive cutaneous lesions, providing him a newfound comfort he had not experienced in some time and suggesting the regimen potentially could be considered in the treatment of refractory severe hypertriglyceridemia with debilitating cutaneous complications.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"255 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140759103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Challenging Case of Diabetes in a Patient With XXYY Syndrome","authors":"Luisa M Bernacet Rivera, H. Aftab, Faryal S Mirza","doi":"10.1210/jcemcr/luae014","DOIUrl":"https://doi.org/10.1210/jcemcr/luae014","url":null,"abstract":"Abstract 48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16.5-19.6 mmol/L). He lacked history of diabetes ketoacidosis, raising the question of maturity-onset diabetes of the young. Workup was negative for glutamic acid decarboxylase-65 and pancreatic islet cell antibody testing. Genetic testing for 5-gene panel for maturity-onset diabetes of the young was also negative. Distinct parts of his presentation make an accurate diabetes diagnosis very challenging. Clinicians should be aware of diabetes associations in patients with XXYY syndrome for optimization of care.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"228 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140793765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Managing Catecholamine Release Syndrome During and Following Lu-177-DOTATATE in High-Risk Pheochromocytoma Patients.","authors":"Tim E Phelps, Jaydira Del Rivero, Daniel S. Chertow, Douglas Rosing, Karel Pacak, Frank I Lin","doi":"10.1210/jcemcr/luae049","DOIUrl":"https://doi.org/10.1210/jcemcr/luae049","url":null,"abstract":"Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-producing tumors that express somatostatin receptors (SSTR) that can be treated with lutetium-177 DOTATATE (Lu-177-TRT); however, treatment can be associated with life-threatening cardiovascular events. A patient case with management strategies for high-risk PPGL patients receiving Lu-177-TRT is described. The 78-year-old patient with metastatic paraganglioma was enrolled and treated under NCT03206060. Deemed to be at high risk, the patient was preemptively admitted to the intensive care unit (ICU) with central line access placed. Due to comorbidities, a reduced dose of 100 mCi x 4 cycles was used for this patient. Vital signs, blood work, and serum catecholamine levels were obtained at various time points. Despite reduced dosing, the patient still developed a severe hypertensive reaction with systolic blood pressure of 240 mmHg within minutes of Lu-177-TRT infusion, which was controlled with an intravenous nicardipine drip. The patient remained in the ICU for 24 hours post Lu-177-TRT before moving to an inpatient ward for an additional 24 hours. All subsequent infusions were performed using reduced doses with elective ICU admissions and were well-tolerated. Despite the increased risk, metastatic PPGL patients can be safely treated with proper staff training, monitoring, and preparation for intravenous medications, especially nicardipine.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"366 ","pages":"luae049"},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140779646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Graves Disease Postthyroidectomy With Fetal Thyrotoxicosis and Goiter","authors":"David Fennell, Jennifer Walsh, B. Cathcart, C. O'Donnell, M. Hatunic","doi":"10.1210/jcemcr/luae060","DOIUrl":"https://doi.org/10.1210/jcemcr/luae060","url":null,"abstract":"Abstract Fetal thyrotoxicosis is a rare condition with high morbidity and mortality. It may complicate pregnancies in women with a history of Graves disease (GD) when transplacental passage of maternal TSH receptor antibodies stimulate the fetal thyroid gland and cause hyperthyroidism. We report the case of a 34-year-old woman with a history of GD and prior thyroidectomy, where fetal thyrotoxicosis at 21 weeks of gestation was suspected due to prenatal ultrasound findings of cardiac failure and fetal goiter. She was treated with high-dose carbimazole and followed closely by a multidisciplinary team. Her baby was delivered in good condition at 34 weeks’ gestation and developed hyperthyroidism in the days after birth, which was successfully treated medically. This case highlights the importance of awareness of the condition among women with a history of GD, as well as the necessity for prompt diagnosis and treatment of this complex disease.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"85 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Knee Pain Consultation to Pituitary Surgery: The Challenge of Cushing Disease Diagnosis","authors":"Maria Alejandra Gómez-Gutiérrez, Juan Miguel Huertas-Cañas, Andrés Bedoya-Ossa","doi":"10.1210/jcemcr/luae048","DOIUrl":"https://doi.org/10.1210/jcemcr/luae048","url":null,"abstract":"Abstract Cushing syndrome (CS) is a rare endocrinological disorder resulting from chronic exposure to excessive cortisol. The term Cushing disease is used specifically when this is caused by excessive secretion of adrenocorticotropic hormone (ACTH) by a pituitary tumor, usually an adenoma. This disease is associated with a poor prognosis, and if left untreated, it has an estimated 5-year survival rate of 50%. We present the case of a 66-year-old female patient who received a referral to endocrinology for an evaluation of obesity due to right knee arthropathy. Taking into consideration her age, she was screened for osteoporosis, with results that showed diminished bone density. Considering this, combined with other clinical features of the patient, suspicion turned toward hypercortisolism. Laboratory findings suggested that the CS was ACTH-dependent and originated in the pituitary gland. After a second look at the magnetic resonance imaging results, a 4-mm lesion was identified on the pituitary gland, prompting a transsphenoidal resection of the pituitary adenoma.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"64 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140769836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation","authors":"S. Khosla, Farah Alsarraf, Eric S Nylen","doi":"10.1210/jcemcr/luad138","DOIUrl":"https://doi.org/10.1210/jcemcr/luad138","url":null,"abstract":"Abstract We present an unusual case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 72-year-old African American man. The patient was found to harbor massively enlarged bilateral adrenal glands on imaging along with mild autonomous cortisol secretion. His workup for PBMAH included leukocyte analysis for the armadillo repeat-containing protein 5 (ARMC5) gene. The test revealed a novel heterozygous somatic ARMC5 mutation. The patient was initially managed conservatively. He subsequently presented with unprovoked bilateral pulmonary emboli. This was followed by the discovery of a nonsecreting pituitary macroadenoma, a hitherto unreported but putative association.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"2 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139437711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-07 Unraveling the Mystery-Conn's Syndrome","authors":"Yv Shree, Mohan K Rao","doi":"10.1210/jcemcr/luad146.010","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.010","url":null,"abstract":"Abstract Background Conn's syndrome, also known as primary aldosteronism, is a rare disease that can manifest at a young age. Resolving the underlying cause of hypertension is crucial, as seen in this case report. Clinical Case A 17-year-old female patient was admitted with a history of recurrent fever over the past 6 months, bifrontal headaches, palpitations, and myalgia for the past 4 months. Examination revealed resistant hypertension, and laboratory results showed persistent hypokalemia and an elevated aldosterone/renin ratio. CT imaging revealed a left adrenal adenoma. A laparoscopic intervention successfully addressed the uncontrolled hypertension. Histological examination confirmed a diagnosis of a benign adrenal cortical adenoma. Conclusion Post-surgery, the patient's overall condition significantly improved, and blood pressure was effectively controlled. This case report underscores the rare presentation of Conn's syndrome in young individuals and emphasizes the importance of investigating specific underlying causes of hypertension to prevent associated morbidity and mortality.Figure 1. Conns syndrome, CT scan, histology section gross. CECT scan of abdomen and pelvis - left adrenal adenoma gross section - cut section adrenal gland -showing 2 cysts one on medial side 1*1cm and inferiolateral side 1*0.5cm histology of the removed adrenal confirmed diagnosis of benign adrenal cortical adenoma Table 1. Conns syndrome investigations Table 2. Conns syndrome investigations","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"121 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139453873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-60 Opioid induced secondary adrenal insufficiency: A case report","authors":"José Vicente Rocha, Marta Vaz Lopes, Carolina Peixe, Mariana De Griné Severino, M. I. Alexandre, Ana Coelho Gomes, M. J. Bugalho","doi":"10.1210/jcemcr/luad146.057","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.057","url":null,"abstract":"Abstract Introduction Opioid treatment is common and useful in acute pain management, but long-term opioid treatment is not routinely recommended. Opioids influence the endocrine system by blunting the hypothalamic–pituitary–adrenal (HPA) axis: as ACTH is synthesized from the same precursor protein as beta-endorphins, opioids lower serum cortisol and supress cortisol response through a mechanism of negative feedback. In the same way, naloxone infusion leads to an increase in serum cortisol. Clinical Case A forty-nine-year-old woman was sent to an endocrinology appointment due to altered serum cortisol measurements. She had a past history of Graves’ disease currently in clinical and biochemical remission. Her history was also notable for chronic obstructive pulmonary disease under inhaled corticosteroids and previous toxicophilic habits under methadone replacement treatment. The patient was asymptomatic with a laboratory evaluation of the HPA axis suggestive of adrenal insufficiency –morning serum cortisol measurements persistently under 10μg/dL. Stimulation test with cosyntropin showed an insufficient response with a peak cortisol of 12 μg/dL, confirming adrenal insufficiency. As the patient had no clinical signs of adrenal insufficiency and was maintained under inhaled corticosteroid treatment, she was given an emergency glucocorticoid card and was instructed to take replacement treatment with hydrocortisone in stress situations. Conclusion In this patient, the HPA axis suppression might have been multifactorial resulting from inhaled glucocorticoids and chronic opioid use. Opioids are very common drugs and adrenal insufficiency is probably more frequent than it is accounted for in this population, with unspecific symptoms but possible serious consequences. Therefore, patients under opioid treatment with suggestive symptoms might benefit from adrenal insufficiency exclusion.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"120 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139453952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-79 Graves’ Disease associated with alemtuzumab use for multiple sclerosis","authors":"Nergis Basmacı, U. Ünlütürk","doi":"10.1210/jcemcr/luad146.071","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.071","url":null,"abstract":"Abstract Introduction Alemtuzumab was the first humanized monoclonal antibody to be created and is directed against CD52, a lymphocyte cell surface marker of unknown function. It has been used to treat leukemia and organ transplant rejection. More recently, alemtuzumab has been demonstrated to be highly effective in treating relapsing-remitting multiple sclerosis (MS) disease. Thyroid disease develops in approximately 20% of patients using alemtuzumab for MS, and Graves’ disease is the most common among them. Graves’ disease has not been reported in the use of alemtuzumab for reasons other than MS. Clinical Case A 28-year-old female patient with a 10 year history of MS had been treated with pulse corticosteroid, β-interferon and fingolimod. She received alemtuzumab in May 2019 due to increased relapse rates. After the first dose of alemtuzumab, she could not continue her treatment program due to the COVID-19 pandemic. Thyrotoxic thyroid functions (TSH: <0.015 uIU/mL, free T4: 24.79 pmol/L) were detected in the laboratory examination of the patient who was admitted to the endocrinology outpatient clinic with the complaint of palpitation in April 2021. The review of the patient's past laboratory test results determined she was euthyroid before alemtuzumab treatment. She had no personal or family history of thyroid disease. She had no signs and symptoms of thyroid ophthalmopathy. Ultrasonographic examination of her thyroid gland revealed normal size gland and pseudonodular appearance in the parenchyma. Subsequent thyroid scintigraphy showed diffuse uptake of the radioisotope and reduced counting time of the examination. These results were consistent with Graves’ disease. The patient was started on 5 mg methimazole twice a day. Since the etiology of Graves’ disease was thought to be primarily related to alemtuzumab, the patient's MS treatment was continued with ocrelizumab. She stopped the methimazole treatment within 3 months and did not regularly show up to her follow-up visit. In November 2022, she was admitted to the outpatient department with palpitation, sweating, and irritability symptoms. Thyrotoxic thyroid functions were detected again (TSH:<0,015 uIU/mL, free T4: 26,82 pmol/L). She was restarted on 5 mg methimazole treatment twice a day. In June 2023, she was euthyroid (TSH: 0,496 uIU/mL, free T4: 5,42 pmol/L, free T4: 10,45 pmol/L) and her TSI level was undetectable. The methimazole was reduced to 5 mg once a day. She continues to her treatment and follow-up in our center. Conclusion Graves’ disease is a common complication of alemtuzumab use in MS. Alemtuzumab-associated Graves’ disease follows an atypical course compared to the classical form of the disease. The spontaneous remission rate is less than in the classical form of the disease, and medical treatment is often required. Thyroidectomy may be necessary in cases that do not respond to antithyroid agents. Close monitoring of thyroid function tests is essential in alemtuzumab-associa","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"106 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139454379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-03 A report of recurring pregnancy-induced Cushing's Syndrome","authors":"M. Niafar, Amir Bahrami, Fatemeh Ghorbani, N. Aghamohammadzadeh, Vahideh Sadra, Nader Nader Djala","doi":"10.1210/jcemcr/luad146.006","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.006","url":null,"abstract":"Abstract Introduction The incidence of pregnancy-induced Cushing's syndrome (CS) is very low. However, the diagnosis of CS in pregnant patients is very difficult because of an overlapping signs and symptoms. Clinical Case A 20-year-old woman with polycystic ovarian syndrome (PCOS) was successfully treated with clomiphene for infertility and pregnant in September of 2016 for the first time. She experienced out of proportion abdominal obesity, excessive striosis, exacerbation of hirsutism and myasthenia during the first trimester of her pregnancy. Initial diagnosis of ovarian hyperstimulation syndrome (OHSS) was made and due to concomitant intrauterine growth retardation (IUGR), the pregnancy was electively terminated at the 8th week. All associated symptoms spontaneously regressed within 2-3 months after the abortion. The second pregnancy was induced with a pulse treatment of letrozole 5 mg, followed by 3 every other day injections of 100 units recombinant follicle-stimulating hormone. Within the first 4 weeks into the second pregnancy, the patient developed recurrence of OHSS symptoms. In addition to the prior symptoms and progressive proximal myasthenia, the patient developed hypertension, round moon-like face, back hump, and suprasternal fat pad consistent with the typical features of CS. In week 14 of pregnancy, the patient complained from acute-onset bilateral blindness and hypertension (blood pressure of 180/120 mmHg), which soon progressed into loss of consciousness and grand-mal seizure. She was admitted to the intensive care unit (ICU). Admission laboratory testing included those to assess the function of the pituitary-adrenal axis (HPA) due to the presence of symptoms related to CS. Based on available clinical information a diagnosis of hemolysis, elevated liver enzymes, and a low platelet count (HELLP) syndrome was made and emergency termination of pregnancy was carried out at the gestational age of 14 weeks. The patient`s clinical signs such as hypertension and acute blindness were totally subsided soon after the therapeutic abortion. Diagnosis of ACTH independent CS was made based on elevated 8 a.m. serum cortisol level unresponsive to low-dose dexamethasone (45-41 µg/ dL). Conclusion Diagnosis of CS in pregnancy is challenging as the physiological changes during pregnancy may mimic those of CS. Long-term treatment of gestational CS has not been as successful. However, in the case of adrenal hyperplasia, bilateral adrenalectomy offers a certain cure. Our patient had a therapeutic abortion due to severe maternal complications and development of CS during the early gestational age. The patient was reeducated on the subject of contraception and the possibility of adrenalectomy for future pregnancies. Due to the temporal relation between the occurrence of CS after each pregnancy the diagnosis of gestational hypercortisolism was made, and for further pregnancies bilateral adrenalectomy was recommended.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"12 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139455448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}