AACE Clinical Case Reports最新文献

{"title":"Panhypopituitarism Secondary to Pituitary Abscess.","authors":"Samir S E Ahmed, Mona Vahidi Rad, Sydney Westphal","doi":"10.1016/j.aace.2024.08.004","DOIUrl":"https://doi.org/10.1016/j.aace.2024.08.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"264-265"},"PeriodicalIF":0.0,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902300","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}

{"title":"Iodine Deficiency Hypothyroidism Among Children in the United States - 21st Century Resurgence?","authors":"Sujatha Seetharaman, Sabitha Sasidharan Pillai, Avani Ganta, Kate Millington, Jose Bernardo Quintos, Lisa Swartz Topor, Monica Serrano-Gonzalez","doi":"10.1016/j.aace.2024.08.003","DOIUrl":"10.1016/j.aace.2024.08.003","url":null,"abstract":"<p><strong>Background/objective: </strong>Iodine deficiency hypothyroidism is an important cause of neurocognitive and motor impairment in children globally. In the United States, universal salt iodization, which began in the 1920s, led to a dramatic decline in iodine deficiency hypothyroidism. However, iodine deficiency may be reemerging due to increased consumption of noniodized salts, decreased dairy iodine concentrations, and decreased intake of iodine containing foods due to food allergies, dietary preferences such as vegan diets, or restrictive food intake disorders.</p><p><strong>Case report: </strong>We present a case series that challenges the existing clinical paradigm for hypothyroidism and describe 3 patients without underlying thyroid dysfunction who were diagnosed with iodine deficiency hypothyroidism over an 18-month period beginning in February 2021 in Northeastern United States. Prior studies reported 2 additional cases diagnosed in that same time frame at our clinical center.</p><p><strong>Discussion: </strong>We report significant heterogeneity in clinical presentation: 3 patients had large goiters, 1 had a mild goiter, and 1 patient had no goiter. Biochemical tests were also variable and included a wide range of thyroid stimulating hormone elevations.</p><p><strong>Conclusion: </strong>We suggest that a spot urine iodine concentration, combined with an elevated serum thyroglobulin level, can be an alternative to a 24-hour urinary iodine excretion for the diagnosis of iodine deficiency hypothyroidism given the clinical challenges of obtaining the latter. Thyroid function normalized in all patients with iodine supplementation.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"236-239"},"PeriodicalIF":0.0,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902288","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}

{"title":"Severe Ectopic Adrenocorticotropic Hormone Syndrome Due to Pulmonary Carcinoid Tumor: A Case Report and Literature Review.","authors":"Karissa Aldrete, Leena Shahla","doi":"10.1016/j.aace.2024.08.002","DOIUrl":"10.1016/j.aace.2024.08.002","url":null,"abstract":"<p><strong>Background/objective: </strong>Pulmonary carcinoid tumors are a rare cause of Cushing's syndrome and usually present with an indolent course. Here, we present a case of rapid onset and severe Cushing's syndrome due to a typical pulmonary carcinoid tumor.</p><p><strong>Case report: </strong>A 32-year-old woman developed diabetes, hypertension, and weight gain of 50 pounds over 3 months. Laboratory evaluation was significant for elevated cortisol and adrenocorticotropic hormone levels and levels were nonsuppressible on low and high-dose dexamethasone suppression tests. Chest computed tomography revealed a pulmonary nodule and biopsy showed a typical carcinoid tumor. She was treated with steroidogenesis inhibitors with a plan for surgical excision but developed worsening complications of hypercortisolemia. She eventually underwent cryoablation of the tumor, but unfortunately passed away just 6 months after her initial presentation.</p><p><strong>Discussion: </strong>Cushing's syndrome in typical pulmonary carcinoid tumors is rarely seen and usually presents with mild hypercortisolism similar to Cushing's disease. Severe hypercortisolemia from typical pulmonary carcinoid tumors can represent a more aggressive pathology or metastatic disease. Severe Cushing's syndrome is associated with significant morbidity and mortality and requires rapid tumor localization as surgical resection can be curative.</p><p><strong>Conclusion: </strong>This case highlights a rare presentation of severe Cushing's syndrome due to a typical pulmonary carcinoid.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"232-235"},"PeriodicalIF":0.0,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902304","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}

{"title":"Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.","authors":"Bright Nwatamole, Sumana Kundu, God-Dowell O Odukudu, Prava Basnet, Lubna Mirza","doi":"10.1016/j.aace.2024.08.001","DOIUrl":"10.1016/j.aace.2024.08.001","url":null,"abstract":"<p><strong>Background/objective: </strong>4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome. Other endocrine abnormalities are short stature and growth hormone deficiency.</p><p><strong>Case report: </strong>We present a 19-year-old female with 4H syndrome due to POLR3B gene mutations who presented with primary amenorrhea. She was referred to our endocrinology clinic by her primary care physician. She was diagnosed with 4H syndrome at age 15 by her pediatrician when she initially presented with primary amenorrhea, ataxia, and tremors and underwent karyotyping and confirmatory genetic tests. However, she received no endocrine care before coming to our clinic at 19. Neurologic exam revealed slight tremors in outstretched hands. A brain MRI study revealed no intracranial abnormalities. We subsequently placed her on Loestrin birth control, an estrogen/progestin combination contraceptive, and she begun having her menstrual periods.</p><p><strong>Discussion: </strong>The prevalence of POLR3-related leukodystrophy is currently unknown. It can appear during childhood or later in life. Early onset increases the risk of mortality in young adulthood. Endocrine care entails hormone replacement therapy and monitoring for dysfunction over time.</p><p><strong>Conclusion: </strong>Early diagnosis of hypogonadotropic hypogonadism in women, with or without other hormonal deficiencies caused by 4H syndrome, is crucial for effective treatment. Treatment should be multidisciplinary and aimed mainly at correcting low estrogen levels.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"229-231"},"PeriodicalIF":0.0,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902560","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}

{"title":"Diabetic Ketoacidosis Without Diabetes Mellitus in Acute Pancreatitis.","authors":"Duha Zaffar, Aditi Rawat, Robert T Chow, Kashif M Munir","doi":"10.1016/j.aace.2024.07.007","DOIUrl":"10.1016/j.aace.2024.07.007","url":null,"abstract":"<p><strong>Background/objective: </strong>Diabetic ketoacidosis (DKA) is typically but not exclusively seen in patients with a history of diabetes mellitus.</p><p><strong>Case report: </strong>This is a case of 39 year-old male who was diagnosed with acute pancreatitis based on characteristic symptoms and positive CT findings on presentation. Laboratory testing revealed elevated serum glucose 251 mg/dL, low serum bicarbonate 8 mmol/L, increased anion gap 21, and elevated serum beta-hydroxybutyrate 9.62 mmol/L. Diagnosis of DKA was made, however patient did not carry a diagnosis of diabetes mellitus. His hemoglobin A1c in hospital was normal at 5.4%. Additionally, follow-up hemoglobin A1c at 4 months and 10 months postdischarge did not imply diabetes mellitus, 5.8% at both time points. The patient who was initially managed with intravenous insulin required no insulin or oral diabetic medication on discharge. All these findings argued against new onset diabetes mellitus.</p><p><strong>Discussion: </strong>This case explores the potential pathophysiology that underlies this phenomenon including possible transient insulin insufficiency due to beta cell dysfunction from pancreatic inflammation. It also highlights the reversibility and transiency of possible beta cell dysfunction during acute pancreatitis and emphasizes the importance of closely assessing the patients' insulin requirements upon discharge, especially when a prior history of diabetes mellitus is absent.</p><p><strong>Conclusion: </strong>DKA can occur as a rare complication of acute pancreatitis in a nondiabetic patient. Hyperglycemia associated with acute pancreatitis-induced DKA can be temporary and these patients might not necessarily require insulin upon discharge. Therefore, careful discharge planning is very important in such patients.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"220-223"},"PeriodicalIF":0.0,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902556","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}

{"title":"Parathyroid Hormone–Related Peptide Secretion From a Pancreatic Neuroendocrine Tumor: A Rare Case Report of Severe Hypercalcemia","authors":"Erin Foley MBBS,&nbsp;Prashanth Hari Dass MBBS,&nbsp;Esther O’Sullivan MBBS, PhD","doi":"10.1016/j.aace.2024.04.009","DOIUrl":"10.1016/j.aace.2024.04.009","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Hypercalcemia is a common occurrence associated with malignancy, due to a number of causes: (1) lytic bone metastases, (2) production of 1,25-dihydroxyvitamin D from lymphoma, and (3) parathyroid hormone–related peptide (PTHrP) secretion usually from solid tumors.</p></div><div><h3>Case Report</h3><p>A 56-year-old woman presented with symptoms of severe hypercalcemia. Investigations determined that this was due to PTHrP secretion from a pancreatic neuroendocrine tumor (pNET), a noted complication in 1.1% of pNET cases. Although unfit for curative therapy, the patient was treated with fluid replacement, bisphosphonates, calcitonin, and denosumab. After treatment, she had recurrent severe symptomatic hypercalcemia on several occasions despite adjunctive therapy with a somatostatin analog. Ultimately, the patient died as a result of refractory hypercalcemia.</p></div><div><h3>Discussion</h3><p>The hypercalcemia that is rarely associated with PTHrP secretion from pNETs is aggressive and often refractory to the usual medical treatment of hypercalcemia of malignancy. Effective treatment requires cytoreduction of the causative tumor. Denosumab, a receptor activator of nuclear factor kappa beta ligand inhibitor, has proven useful in some cases.</p></div><div><h3>Conclusion</h3><p>This challenging case highlighted the rare but potentially fatal association of pNET with hypercalcemia. Hypercalcemia was the main cause of mortality in an otherwise relatively indolent malignancy.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 160-163"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000452/pdfft?md5=11bef7d4a927d87d5ab8aa84546b1854&pid=1-s2.0-S2376060524000452-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141041108","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}

{"title":"Unusual Case of Adrenal Artery Aneurysm: Diagnosis and Management","authors":"Omolade O. Sogade MD ,&nbsp;C. Corbin Frye MD ,&nbsp;Daniel Picus MD ,&nbsp;Sina Jasim MD, MPH ,&nbsp;Taylor C. Brown MD, MHS","doi":"10.1016/j.aace.2024.03.004","DOIUrl":"10.1016/j.aace.2024.03.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 166-167"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000282/pdfft?md5=7945ae337bb1fd37a29a302f18d21cd7&pid=1-s2.0-S2376060524000282-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140279024","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}

{"title":"Management of Dysglycemia in a Pregnancy Complicated by Fanconi-Bickel Syndrome","authors":"Emily D. Szmuilowicz, Ellen Fruzyna, Nigel Madden, Janelle R. Bolden, Anne Kozek, E. Vucko, Cybele Ghossein, Grant Barish","doi":"10.1016/j.aace.2024.07.008","DOIUrl":"https://doi.org/10.1016/j.aace.2024.07.008","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"13 s1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141842614","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":"Hypocalcemia and Hypoparathyroidism Associated With Critical Illness and Aplastic Anemia","authors":"Tatiana Tselovalnikova MD, PhD ,&nbsp;Kavita Jadhav MD, FACP ,&nbsp;John Foxworth PharmD ,&nbsp;Peminda K. Cabandugama MD, DABOM ,&nbsp;Sophia Galustian MD ,&nbsp;Betty M. Drees MD, FACP, FACE","doi":"10.1016/j.aace.2024.04.007","DOIUrl":"10.1016/j.aace.2024.04.007","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Severe hypocalcemia is common in critically ill patients. There are different mechanisms. To our knowledge, there are no data about the acute presentation of hypocalcemia at the time of diagnosis of aplastic anemia (AA). The objective of this case report was to describe the case of hypoparathyroidism with severe hypocalcemia in a critically ill patient with AA.</p></div><div><h3>Case Report</h3><p>A 60-year-old man presented with severe hypocalcemia with a calcium level of 6.1 mg/dL (reference range, 8.6-10.3 mg/dL) and hypoparathyroidism with a parathyroid hormone level of 11 pg/mL (reference range, 12-88 pg/mL). He developed a critical state caused by newly diagnosed AA and its complications, such as an acute decrease in the platelet value to a critically low level of 2 × 10³/cmm, complicated by neutropenic fever and lower gastrointestinal bleeding. After the initiation of immunosuppressive therapy for AA, his parathyroid hormone-calcium metabolism improved and remained stable but did not normalize completely.</p></div><div><h3>Discussion</h3><p>In our patient, hypoparathyroidism with hypocalcemia may have been caused by cytokine-related upregulation of the calcium-sensing receptor in the setting of AA. On the other hand, given the severity of the initial hypocalcemia and only partial improvement in calcium homeostasis with residual mild hypocalcemia after treatment initiation for AA, autoimmune causes cannot be entirely ruled out, nor could a combination of cytokine-mediated and autoimmune causes.</p></div><div><h3>Conclusion</h3><p>It is essential to treat the underlying causes of hypocalcemia, which, in this case, were AA and hypoparathyroidism.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 156-159"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000427/pdfft?md5=32b9107dd91bea878fad51273bc7fe8f&pid=1-s2.0-S2376060524000427-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141042665","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}

{"title":"Pulmonary Metastatic Follicular Thyroid Carcinoma Without Intrathyroidal Primary Thyroid Cancer","authors":"Sima Saberi MD ,&nbsp;Nicholas Burris MD ,&nbsp;Ka Kit Wong MBBS ,&nbsp;Noah A. Brown MD ,&nbsp;Thomas Giordano MD, PhD ,&nbsp;Nazanene H. Esfandiari MD","doi":"10.1016/j.aace.2024.03.006","DOIUrl":"10.1016/j.aace.2024.03.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Follicular thyroid cancer without an intrathyroidal primary cancer is rare. We present a patient with multifocal pulmonary metastatic follicular thyroid cancer without apparent cancer within her thyroid.</p></div><div><h3>Case Report</h3><p>A 44-year-old woman was referred to the thyroid cancer clinic via telemedicine for evaluation of intrapulmonary thyroid tissue. Her past medical history included Roux-en-Y gastric bypass and hysterectomy with bilateral oophorectomy. Six months prior, abdominal computed tomography (CT) showed incidental bilateral lung nodules. Chest CT demonstrated 4 solid left and 1 solid right lung nodules. Lung nodule core biopsy revealed benign thyroid tissue. Thyroid ultrasound showed bilateral subcentimeter anechoic nodules. Chest CT 6 months after initial CT demonstrated stable lung nodules. The levels of thyroid-stimulating hormone, serum thyroglobulin, and thyroglobulin antibody were 1.63 mIU/L (reference range, 0.3-5.5 mIU/L), 40.9 ng/mL (reference range, 0-35 ng/mL), and &lt;1 IU/mL (reference range, &lt;4), respectively. Positron emission tomography/CT showed fluorodeoxyglucose-avid lung lesions measuring 1.5, 1.1, and 2.2 cm and other subcentimeter pulmonary nodules. Repeat lung core biopsy showed thyroid tissue with microfollicular architecture, favoring metastatic follicular carcinoma with neuroblastoma-RAS gene (<em>NRAS</em>) mutation. Total thyroidectomy performed showed multinodular hyperplasia without thyroid cancer. Her postoperative radioiodine scan demonstrated bilateral iodine-avid pulmonary nodules, a serum thyroglobulin level of 179.8 ng/mL, a thyroid-stimulating hormone level of 151.3 mIU/L, and undetectable serum thyroglobulin antibody. She received 261 mCi of radioactive iodine. Fourteen months later, chest CT revealed decreased lung nodules and a serum thyroglobulin level of 0.7 ng/mL.</p></div><div><h3>Discussion</h3><p>Approximately 2 cases of multifocal pulmonary follicular thyroid cancer without a primary source and no other site of metastasis have been reported.</p></div><div><h3>Conclusion</h3><p>Pulmonary follicular thyroid cancer without a primary source and no other site of metastasis is extremely rare.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 123-126"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000300/pdfft?md5=a5282e46718123241d6426b526d7dda5&pid=1-s2.0-S2376060524000300-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140405885","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}