Case Reports in Endocrinology最新文献

{"title":"Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.","authors":"Adeeba Afrah, Michael A Finkel, Carolina Fonseca, Marianne Tomiyoshi Asato, M Susan Jay, Athina Pappas, Shashikala B Gowda, Allison Jay","doi":"10.1155/crie/6063059","DOIUrl":"https://doi.org/10.1155/crie/6063059","url":null,"abstract":"<p><p><b>Objectives:</b> Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). <b>Methods:</b> This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents-first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO). Following a planned C-section at 37 weeks gestation, the neonate exhibited moderate respiratory distress with subcostal retractions. On physical examination, craniotabes, a bell-shaped chest, and a continuous machinery-type murmur were noted. <b>Results:</b> Evaluation at birth revealed a large Patent Ductus Arteriosus and significant demineralization of skeletal structures with atypical rib morphology. Lab work at 24 h of life (HOL) showed elevated serum calcium level (14.3 mg/dL), ionized calcium-iCal (2.32 mmol/L), and normal 25-OH Vitamin D (54.2 ng/mL). A comprehensive skeletal survey uncovered generalized osteopenia, metaphyseal lucencies, and evidence of healing fractures. Repeat lab work at 43 HOL, showed serum calcium of 18.0 mg/dL, iCal 2.67 mmol/L, and elevated parathyroid hormone (PTH) of 2116 pg/mL. Diagnosis of NSHPT was established based on laboratory findings. Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium-sensing receptor (CaSR) gene which confirmed the diagnosis of NSHPT. NSHPT, a rare genetic disorder associated with high mortality rates, is often caused by inactivating CaSR gene variants. The patient's family history revealed a strong correlation with familial hypocalciuric hypercalcemia (FHH), a benign condition associated with asymptomatic hypercalcemia, normal to minimally elevated parathyroid level, and hypocalciuria, it is caused by heterozygous inactivating mutations in the CaSR gene. Treatment of NSHPT typically involves total or subtotal parathyroidectomy; however, initial medical intervention is often necessary. In this case, the neonate underwent medical treatment with calcitonin, furosemide to help facilitate renal clearance of calcium, and intravenous fluids before a successful parathyroidectomy. <b>Conclusions:</b> This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate interventions.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"6063059"},"PeriodicalIF":0.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863494","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":"A Rare Case of Functional Metastatic Follicular Thyroid Carcinoma With Concomitant Thyrotoxicosis.","authors":"Yun Ann Chin, Zaheer Sumbul, Yi Lin Teh, Chiaw Ling Chng","doi":"10.1155/crie/1398125","DOIUrl":"https://doi.org/10.1155/crie/1398125","url":null,"abstract":"<p><p>We report a case of a 60-year-old lady with metastatic follicular thyroid carcinoma (FTC) who was presented with thyrotoxicosis and heart failure symptoms after total thyroidectomy. Clinical features and investigations led to the diagnosis of functional metastatic FTC with concomitant thyrotoxicosis. Levothyroxine therapy was stopped, and she was treated with propylthiouracil (PTU) followed by serial radioiodine treatments (RAITs) with good control of thyrotoxicosis and metastases. Despite having a very high disease burden with metastatic FTC, she has been able to maintain her functional status thus far, 4.5 years after initial diagnosis.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"1398125"},"PeriodicalIF":0.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863492","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":"The Co-Occurrence of Medullary and Papillary Thyroid Carcinoma-A Literature Review Based on a Case Report.","authors":"Katharina Nordhausen, Timo Deutschbein, Volker Heinrichs, Dirk Weyhe, Navid Tabriz","doi":"10.1155/2024/2393186","DOIUrl":"https://doi.org/10.1155/2024/2393186","url":null,"abstract":"<p><p><b>Background:</b> The co-occurrence of medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) is thought to be a rare phenomenon. Here, we present a patient undergoing surgery due to a suspected MTC. Histopathological workup confirmed the suspected diagnosis but also described an incidental PTC in the contralateral lobe with lymph node metastasis in the central cervical compartment. <b>Case Presentation:</b> A 58-year-old female presented with thyroid nodules and significantly elevated levels of calcitonin and carcinoembryonic antigen (CEA). She underwent total thyroidectomy along with central and bilateral lymph node dissection. Histology revealed a MTC of 20 mm and a BRAF V600E-positive PTC of 11 mm with central cervical lymph node metastasis. Postoperatively, ablative radioiodine therapy was performed. Two months later, both calcitonin and CEA were normalized. <b>Conclusion:</b> Simultaneous occurrence of MTC and PTC seems to be rare, but recent literature suggests that simultaneous occurrence is probably more frequent than initially thought. Preoperative calcitonin can be helpful in the diagnostic workup of thyroid nodules. Due to different treatment strategies, precise histological differentiation of potential lymph node metastasis is essential.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"2393186"},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495749","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":"Myxedema Coma as a Presentation of Panhypopituitarism Secondary to Traumatic Brain Injury.","authors":"Diego Rivas-Otero, Tomás González-Vidal, Pedro Pujante Alarcón, Elías Delgado Álvarez, Edelmiro Menéndez Torre","doi":"10.1155/2024/3588840","DOIUrl":"https://doi.org/10.1155/2024/3588840","url":null,"abstract":"<p><p><b>Background/Objective:</b> Myxedema coma typically presents with decreased level of consciousness and hypothermia, often due to thyroid pathology. In central causes, normal thyroid-stimulating hormone (TSH) levels may delay diagnosis. The purpose of this report is to describe a patient with a history of head trauma who presented with myxedema coma as a manifestation of panhypopituitarism. <b>Case Report:</b> The admitted patient was a 52-year-old man who presented with mental and physical slowness, drowsiness, and weakness. He also had hypotension, hypoglycemia, and low oxygen saturation. Initial evaluation revealed severe pericardial and bilateral pleural effusions, plasma TSH of 2.42 mU/L (normal range 0.25-5.00 mU/L), and plasma adrenocorticotropic hormone (ACTH) of 7.1 pg/mL (normal range 5.2-40.3 pg/mL). Later, his condition deteriorated with anasarca and coma. Signs of improvement were noted after intravenous corticosteroid administration. A subsequent blood test was conducted, which showed a free thyroxine (FT4) level of 0.14 ng/dL (normal range 0.93-1.70 ng/dL). A cranial magnetic resonance scan revealed posttraumatic lesions. The patient's family later admitted head injuries at home. Treatment with intravenous levothyroxine was initiated, resulting in improvement and subsequent discharge in perfect alertness. <b>Conclusion:</b> Hypopituitarism should be suspected in patients with head trauma and symptoms of hormone deficiency. Advanced clinical forms, such as myxedema coma, may also occur. Pituitary hormone levels might be in the normal range, so target gland hormones should be assessed to reach a diagnosis. In the case of suspected central hypothyroidism, requesting only TSH levels may result in a missed diagnosis. For this reason, both TSH and FT4 levels should be measured when central hypothyroidism is suspected.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"3588840"},"PeriodicalIF":0.9,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11498969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495748","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":"A Single Pelvic Fibrous Tumor Associated With Doege-Potter Syndrome: A Case Study.","authors":"Wangjia Mao, Yuefang Sun, Shan Yan, Yuan Gao, Le Bu, Xiaoyun Cheng","doi":"10.1155/2024/4584292","DOIUrl":"10.1155/2024/4584292","url":null,"abstract":"<p><p>Doege-Potter syndrome (DPS) is a very rare paraneoplastic condition that is marked by hypoglycemia brought on by a solitary fibrous tumor rather than an islet cell tumor. Soft tissue neoplasms termed as solitary fibrous tumors (SFTs) are rare and these tumors vary in the site of origin, from the pleural cavity, mediastinum, pericardium, retroperitoneal spaces, liver, thyroid, orbit, bladder, intestines, and soft tissues, while pelvic-derived fibrous tumors are incredibly unusual. There are currently extremely few documented cases and literature reviews both domestically and internationally. In this case study, we present an 82-year-old woman who developed DPS as a result of malignant pelvic SFTs. Her hypoglycemia was clinically healed after she underwent laparoscopic retroperitoneal tumor resection in our institution, and thereafter, her quality of life improved.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"4584292"},"PeriodicalIF":0.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458765","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":"Frequent Seronegative Primary Hypothyroidism in Myxedema Coma in Japan: Three Case Reports With a Systematic Review.","authors":"Yosuke Okuno, Kosuke Mukai, Yuri Tamura, Tomoaki Hayakawa, Atsunori Fukuhara, Iichiro Shimomura","doi":"10.1155/2024/2524019","DOIUrl":"10.1155/2024/2524019","url":null,"abstract":"<p><p>Myxedema coma is a rare life-threatening form of hypothyroidism that manifests as neuropsychiatric, metabolic, respiratory, and cardiovascular dysfunction. From 2010 to 2022, our hospital managed three cases of myxedema coma. While the overall characteristics of these cases were similar to those in previous reports, we noticed that all cases were negative for thyroid autoantibodies and an autopsy in one of the cases exhibited end-stage thyroiditis. During a systematic review of cases from 1999 to 2022, we also noticed that a significant proportion of myxedema coma was caused by seronegative primary hypothyroidism especially in Japan.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"2524019"},"PeriodicalIF":0.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485777","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":"A Case of Acute Hypertriglyceridemia-Induced Pancreatitis in Pregnancy and Its Clinical Implications.","authors":"Corley Rachelle Price, Anthony Kendle, Mary Ashley Cain","doi":"10.1155/2024/5896861","DOIUrl":"https://doi.org/10.1155/2024/5896861","url":null,"abstract":"<p><p>Acute hypertriglyceridemia-induced pancreatitis (HTGP) is an uncommon occurrence during pregnancy. Prompt diagnosis and initiation of treatment are indicated to prevent adverse maternal and neonatal outcomes. We present the case of a pregnant female who was diagnosed with HTGP at 34 weeks gestation and subsequently developed diabetic ketoacidosis (DKA) and preeclampsia with severe features. We describe the pathophysiology of acute HTGP and its relation to the gravid state and review available treatment options though data remains limited. Our case emphasizes the potential sequelae of HTGP in pregnancy, the need for a multidisciplinary approach for optimal care, and the importance of early treatment in improving maternal and neonatal outcomes.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"5896861"},"PeriodicalIF":0.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11486530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458764","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 Presentation of Craniopharyngioma Pituitary Mass in a 71-Year-Old Female: A Case Report.","authors":"Taylor F Faust, Punuru Reddy, Jillian Weiss, Michael Steadman, Connie Morizio, Garrett Cail","doi":"10.1155/2024/1333552","DOIUrl":"https://doi.org/10.1155/2024/1333552","url":null,"abstract":"<p><p>In this report, we present the case of a 71-year-old African-American woman experiencing 2 months of intermittent headaches and episodes of blurred vision. Despite a comprehensive medical history that revealed chronic conditions and previous unrelated surgeries, the initial evaluation appeared to be unremarkable. Following the discovery of a mass on an imaging and a subsequent biopsy, the diagnosis of craniopharyngioma (WHO grade I) was confirmed. However, a brain mass was identified after additional ophthalmologic examination and MRI. This case explores the significance of recognizing atypical presentations of a brain injury that required a specific approach for diagnosis, surgical intervention and treatment, and postoperative care. This case contributes to the constantly evolving understanding of atypical manifestations of tumor characteristics and their complexities, along with the need to develop appropriate patient management strategies and provide optimal outcomes.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"1333552"},"PeriodicalIF":0.9,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485778","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":"Diabetes Myonecrosis: A Debilitating Complication in an Indigenous Young Woman With Long Standing Type 1 Diabetes Mellitus.","authors":"Jinwen He, Liyan Wang, Thomas Robertson, Swetha Rangaswamaiah, Usman H Malabu","doi":"10.1155/2024/8839798","DOIUrl":"10.1155/2024/8839798","url":null,"abstract":"<p><p>A 24-year-old Indigenous Australian female with long-standing, poorly controlled type 1 diabetes mellitus (T1DM) presented with 3 months' history of unilateral thigh swelling and pain. Her laboratory investigations showed evidence of a persistent inflammatory state with normal creatine kinase. Infectious and autoimmune investigations were negative. Imaging demonstrated evidence of muscular oedema and atrophy. Muscular pain and swelling have a broad list of differential diagnoses. This case highlights a rare but potentially debilitating complication of diabetes mellitus-diabetic myonecrosis with its challenges in reaching a definitive diagnosis due to non-specific symptomology and laboratory findings. However, it is an important differential of leg pain and swelling to consider, particularly in those with long-standing diabetes and pre-existing microvascular complications. Glycaemic control is paramount in preventing this potentially severe diabetic complication.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"8839798"},"PeriodicalIF":0.9,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380104","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":"COVID-19-Induced Refractory Symptomatic Hypocalcemia in a Patient With Parathyroid Gland Reimplantation.","authors":"Crystal Tse, Ho-Man Yeung","doi":"10.1155/2024/6375828","DOIUrl":"10.1155/2024/6375828","url":null,"abstract":"<p><p><b>Background:</b> Several cases of severe hypocalcemia in the setting of COVID-19 have been reported. The proposed mechanisms include direct viral interaction with ACE2 receptors in the parathyroid gland, viral chelation of calcium, worsening hypovitaminosis D, critical illness leading to unbound fatty acids binding calcium, and inflammatory cytokines leading to PTH resistance. Given the life-threatening nature of hypocalcemia, this underrecognized phenomenon should be on the forefront of the clinician's attention. This case highlights a rare manifestation of COVID-19 and further complicated by the patient's reimplanted parathyroid gland. <b>Presentation:</b> A 73-year-old female with primary hyperparathyroidism status post parathyroidectomy with reimplantation in the left forearm presented with 4 days of viral syndrome, found to have tetany and Chvostek's sign on physical exam. Pertinent laboratory abnormalities included calcium 5.3 mg/dL, ionized calcium 0.44 mmol/L, magnesium 1.4 mg/dL, phosphorous 5.5 mg/dL, PTH 242 pg/mL, and 25-OH vitamin D 56 ng/mL. Chest CT revealed multifocal pneumonia consistent with positive COVID-19 testing. She was subsequently admitted to the ICU for severe, symptomatic hypocalcemia and was initiated on a continuous calcium infusion, remdesivir, baricitinib, and steroids. Tetany resolved after 9 g calcium repletion, and she was transferred to the medical floor with an ionized calcium of 0.83 mmol/L. On hospital day 3, repeat ionized calcium was 0.78 mmol/L despite ongoing repletion. Given the persistence of hypocalcemia, a repeat PTH level was obtained which remained high at 487 pg/mL, suggesting ongoing PTH interference in the setting of COVID-19. PTH was obtained from the right (nonimplanted) arm which was normal at 74 pg/mL. This indicated an appropriate PTH response from the reimplanted gland, and that ongoing hypocalcemia may be due to insufficient PTH function to maintain systemic calcium levels or a peripheral interference with PTH level. With continued calcium supplementation and treatment of COVID-19, the patient's calcium stabilized at 8.6 mg/dL. She was discharged on oral calcium supplementation with endocrinology follow-up. <b>Conclusion:</b> Acute hypocalcemia strongly correlates with a profound inflammatory response in COVID-19 patients. This case corroborates the cytokine/PTH hypothesis. This patient had a high PTH sampled near the reimplanted gland but an inappropriately normal PTH from the nonimplanted arm, indicating that direct viral interaction interfering with PTH release is an unlikely mechanism. This case represents a scenario where PTH can be sampled directly from the source and this type of model could aid in the process of determining the etiology of hypocalcemia in COVID-19.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"6375828"},"PeriodicalIF":0.9,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361184","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}