Case Reports in Endocrinology最新文献

{"title":"Right Femoral Fragility Fracture in an Adolescent with Vitamin D Deficiency from COVID-19 Pandemic-Related Confinement.","authors":"Suhasheni Rajendran, Ze Chen Lee, Chu Ee Seow, Chong Hui Khaw","doi":"10.1155/2024/8354501","DOIUrl":"10.1155/2024/8354501","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic has caused major impacts in various aspects of our life. In Malaysia, a Movement Control Order was imposed in March 2020. For almost two years, school going children and adolescents were not able to attend school physically, and their physical activity was confined within their room or house on most days. <i>Case Description</i>. We describe a case of a 14-year-old boy who was previously active in sports and sustained a low trauma fracture at the right neck of the femur following a prolonged period of extreme sedentary life along with poor dietary intake during the COVID-19 pandemic period. He underwent open reduction and screw fixation for the right neck femur fracture. He was thin with a low BMI (15.62 kg/m²) and a significant loss of muscle bulk in all limbs. Laboratory tests showed vitamin D deficiency (15.3 nmol/L) and the dual energy X-ray absorptiometry (DXA) showed a low Z-score for the total spine (-2.2) and total hip (-3.9). He was treated with activated vitamin D and vitamin D3 replacement. Sports physician was involved for individualized postoperative rehabilitation. Successive clinic visits showed remarkable improvements in physical fitness, sports participation, and normalization of vitamin D levels.</p><p><strong>Conclusion: </strong>A high degree of suspicion is needed to rule out secondary causes in adolescents who present with unusual fragility fractures.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"8354501"},"PeriodicalIF":1.1,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10948220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159882","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 Type 2 Diabetes Mellitus with Lung Cancer Suffered from Euglycemic Diabetic Ketosis Accompanied by Adrenal Insufficiency after Immune Checkpoint Inhibitors.","authors":"Saeko Shibasaki, Chisei Noda, Akihisa Imagawa, Sadaki Sakane","doi":"10.1155/2024/9982174","DOIUrl":"10.1155/2024/9982174","url":null,"abstract":"<p><p>A 74-year-old patient with type 2 diabetes mellitus received basal-bolus insulin, insulin secretagogues, and sodium glucose transporter 2 (SGLT2) inhibitors. After immune checkpoint inhibitor treatment for lung cancer, he suffered from depressed consciousness with a urinary ketone body (3+). When all hypoglycemic treatments were discontinued, his serum blood glucose remained at 121 mg/dL. He was diagnosed with euglycemic diabetic ketosis. Endocrine loading tests revealed isolated adrenocorticotropic hormone (ACTH) deficiency as an immune-related adverse event. It was suggested that euglycemic diabetic ketosis was induced by the self-suspension of insulin and insulin secretagogues, adrenal insufficiency, SGLT2 inhibitors, and carbohydrate intake shortage.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"9982174"},"PeriodicalIF":1.1,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10898944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982470","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 Hypercalcemia Caused by Calcium-Alkali Syndrome after 15 Years of Postoperative Hypoparathyroidism in a Patient with Undiagnosed Hyperaldosteronism.","authors":"Natália Diel Boufleuer, Dimitris V Rados, Tatiana Zambonato, Clara K Maraschin, Beatriz D Schaan","doi":"10.1155/2024/3067354","DOIUrl":"https://doi.org/10.1155/2024/3067354","url":null,"abstract":"<p><strong>Introduction: </strong>The triad of hypercalcemia, metabolic alkalosis, and acute kidney injury associated with ingesting high doses of calcium and absorbable bases characterizes the calcium-alkali syndrome. <i>Clinical Case</i>. We report the case of a patient with postthyroidectomy hypoparathyroidism 15 years ago due to differentiated thyroid cancer who presented with severe hypercalcemia. He had adequate control of calcemia for many years on treatment with calcitriol and calcium carbonate and hypertension treated with amlodipine, losartan, and hydrochlorothiazide. After a period of loss to follow-up, he suddenly presents with severe hypercalcemia, metabolic alkalosis, and loss of renal function. Upon hydration and withdrawal of calcitriol and calcium replacements, hypercalcemia resolved. The etiological investigation identified no granulomatous or neoplastic diseases, but an aldosterone-producing adrenal incidentaloma was found. The cause of hypercalcemia in this patient was calcium-alkali syndrome due to calcium carbonate replacement potentiated by hydrochlorothiazide and primary aldosteronism. Six months after the hospitalization and suspension of calcium and vitamin D, the patient returned to hypocalcemia, reinforcing the diagnosis.</p><p><strong>Conclusion: </strong>Although seldom described, the calcium-alkali syndrome is an expected complication for individuals with postoperative hypoparathyroidism, as they require lifelong calcium and vitamin D supplementation. This case also shows the importance of hydrochlorothiazide use and primary aldosteronism as possible triggers of life-threatening hypercalcemia.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"3067354"},"PeriodicalIF":1.1,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10890900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971085","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":"Case Presentation: Functional Assessment of a <i>CASR</i> Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism.","authors":"Bryan K Ward, Kirsten A Loffell, John P Walsh, Warwick D Howe, Suzanne J Brown, Scott G Wilson","doi":"10.1155/2024/6652801","DOIUrl":"https://doi.org/10.1155/2024/6652801","url":null,"abstract":"<p><strong>Background: </strong>Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential diagnosis difficult. Genetic screening for inactivating variants in the calcium-sensing receptor (<i>CASR</i>) gene that are causative of FHH assists with the diagnosis since such variants are not generally associated with PHPT. However, novel <i>CASR</i> variants must undergo functional assessment before they can be definitively assigned a causative role in FHH. <i>Case Presentations</i>. We describe a 73-year-old female (patient A) who presented with mild parathyroid hormone (PTH)-dependent hypercalcaemia and a history of osteoporosis. Family history revealed that her sister (patient B) had presented a decade earlier with symptoms of PHPT including a history of mild hypercalcaemia and multiple renal calculi, prompting parathyroid surgery. However, a subtotal parathyroidectomy did not resolve her hypercalcaemia long term. On this basis, genetic screening was performed on patient A. This identified a heterozygous variant in the <i>CASR</i>, NM_000388.4:c.T101C: p.Leu34Pro (L34P). Functional analysis showed that the L34P variant was unable to produce mature, dimerized receptor and did not respond to Ca⁺⁺ ions. Adopting American College of Medical Genetics-based guidelines, the variant was classified as 'Pathogenic (II)'. Patient B was subsequently found to carry the L34P variant heterozygously, confirming a diagnosis of FHH, not PHPT.</p><p><strong>Conclusion: </strong>This study shows the importance of examining patient's family history in providing clues to the diagnosis in isolated cases of hypercalcaemia. In this case, history of a sister's unsuccessful parathyroidectomy prompted genetic screening in a patient who might otherwise have undergone inappropriate parathyroid surgery. Screening detected an inactivating <i>CASR</i> variant, firming up a diagnosis of FHH. These studies reaffirm the requirement for functionally assessing novel <i>CASR</i> variants prior to assigning causality to FHH.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"6652801"},"PeriodicalIF":1.1,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721772","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":"Hypocalcemia and Hypophosphatemia following Concurrent Denosumab Injection and Ferric Carboxymaltose Infusion in a Patient with Normal Renal Function.","authors":"Naomi Szwarcbard, Chloe Dawson, Lai-Ming Kathleen Pak, Kathryn L Hackman","doi":"10.1155/2024/8910092","DOIUrl":"https://doi.org/10.1155/2024/8910092","url":null,"abstract":"<p><p>Hypocalcemia following denosumab administration is well described. Hypophosphatemia following an intravenous iron infusion is an increasingly recognized adverse effect. Intravenous iron preparations increase fibroblast growth factor 23 (FGF23) levels. This both stimulates renal phosphate excretion and reduces 1,25-dihydroxyvitamin D (1,25(OH)₂D) levels, resulting in reduced calcium absorption. Both osteoporosis and iron deficiency are common and frequently co-occur. The convenience and efficacy of both denosumab, a subcutaneous injection, and ferric carboxymaltose (Ferinject®), a 15-minute intravenous infusion, both of which can be given in the primary care setting, make these preferred treatment options. However, prescribers are often unaware of potential adverse outcomes, especially when these medications are given in tandem. We present a case of symptomatic hypocalcemia and hypophosphatemia in a 29-year-old woman with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and normal renal function, in the setting of concurrent denosumab and ferric carboxymaltose administration for treatment of glucocorticoid-induced osteoporosis and iron deficiency anemia.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2024 ","pages":"8910092"},"PeriodicalIF":1.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10853017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721773","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":"Switching from Natural Desiccated Thyroid to a Liquid Formulation of Levothyroxine for Hypothyroidism.","authors":"Linda Khoshaba, Laurena Patarkatsi","doi":"10.1155/2023/4252894","DOIUrl":"10.1155/2023/4252894","url":null,"abstract":"<p><p>Natural desiccated thyroid (NDT) is a treatment option for many patients with hypothyroidism, but some still exhibit symptoms despite achievement of normal levels of thyroid stimulating hormone (TSH). In this retrospective case series, 13 patients with hypothyroid symptoms were switched from NDT to a liquid formulation of levothyroxine (LT4; Tirosint®-SOL). Laboratory values ≥4 weeks following the switch showed a decrease in TSH levels, maintenance of free triiodothyronine (fT3) levels, and significant increases in free thyroxine (fT4) levels. Patients reported good tolerability, and case summaries are presented for four patients. In summary, this small retrospective case series showed that patients who still had hypothyroid symptoms despite use of NDT can respond well to oral LT4 liquid formulation, including patients who are intolerant of gluten and/or lactose or on hormone replacement therapy or iron supplementation.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"4252894"},"PeriodicalIF":1.1,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097398","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":"Hypoglycaemia after Initiation of CFTR Modulator Therapy in a Cystic Fibrosis Patient without Diabetes.","authors":"Marie Yskout, Joke Vliebergh, Hakan Bor, Lieven Dupont, Natalie Lorent, Pascal Van Bleyenbergh, Pieter Gillard, Bart Van der Schueren, Ann Mertens, Chantal Mathieu, Roman Vangoitsenhoven","doi":"10.1155/2023/9769119","DOIUrl":"10.1155/2023/9769119","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis transmembrane regulator (CFTR) modulator therapies improve respiratory function and glycaemic control in patients with cystic fibrosis (CF). The direct effect of CFTR modulator therapies on pancreatic function in patients without preexisting diabetes remains unclear. <i>Case Presentation</i>. An 18-year-old female with CF caused by F508del/F508del mutation, who had no diabetes, developed postprandial hypoglycaemias 6 months after initiation of elexacaftor, tezacaftor, and ivacaftor combination therapy (ETI). Symptoms were persisted after brief discontinuation of ETI, but her symptoms and time-in-hypoglycaemia had improved remarkably by avoiding high glycaemic index-foods. <i>Discussion</i>. This case of hypoglycaemia associated with CFTR modulator therapy in a patient without preexisting diabetes suggests that CFTR modulator therapy has the potential to directly affect glucose homeostasis. There might be an improvement in insulin secretion as well as a reduction in systemic insulin resistance.</p><p><strong>Conclusion: </strong>Treatment of CF patients without diabetes with CFTR modulator therapies can cause recurrent hypoglycaemic episodes which resolve with dietary measures.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"9769119"},"PeriodicalIF":1.1,"publicationDate":"2023-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10757659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139073437","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":"Hypopituitarism due to a Large Osteoclastoma Arising from the Sphenoid Bone Invading the Pituitary Fossa in a Patient with Parathyroid Carcinoma.","authors":"Leonardo Bandeira, Lucian Batista de Oliveira, Maria Vitória Silva de Lima, Daniella Rêgo, Luiz Griz, Francisco Bandeira","doi":"10.1155/2023/8274108","DOIUrl":"10.1155/2023/8274108","url":null,"abstract":"<p><strong>Background: </strong>Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications such as osteoclastomas and pathologic fractures. Here, we present a rare condition of panhypopituitarism resulting from an osteoclastoma in the sphenoid bone that invaded the pituitary fossa due to parathyroid carcinoma. <i>Case Report</i>. A 47-year-old woman previously diagnosed with PHPT underwent a parathyroidectomy 6 years earlier, with histological examination indicating a parathyroid adenoma. After surgery, she continued to exhibit high serum parathyroid hormone (PTH) and calcium levels, with the development of bone pain and spontaneous fractures. Imaging exams showed a large osteoclastoma of the sphenoid bone, invading the pituitary fossa, causing hypopituitarism. A new parathyroidectomy was performed, with histological confirmation of parathyroid carcinoma and regression of the osteoclastoma.</p><p><strong>Conclusion: </strong>This case illustrates an unusual presentation of parathyroid carcinoma, in which an osteoclastoma of the sphenoid bone caused hypopituitarism.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"8274108"},"PeriodicalIF":1.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10754633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058142","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":"Thymic Carcinoid in a Patient with Concurrent Manifestations of Multiple Endocrine Neoplasia Type 1.","authors":"Jasmine Zhu, Samantha Dean, Umbreen Hafeez, Sandra Neoh","doi":"10.1155/2023/8801080","DOIUrl":"10.1155/2023/8801080","url":null,"abstract":"<p><p>Thymic carcinoid tumours, especially in the context of multiple endocrine neoplasia type 1 (MEN 1), present significant clinical challenges due to their rarity and aggressive nature. This case report describes a complex patient with MEN 1, who suffered from multiple manifestations of the disease, including thymic carcinoid. The tumour was initially resected and treated with adjuvant radiotherapy. Due to slow progression over the years, the tumour was treated with two lines of chemotherapy before the patient succumbed to progressive disease. There is currently limited evidence favoring any specific medical treatment for thymic carcinoid.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"8801080"},"PeriodicalIF":1.1,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10728356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798388","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":"An Atypical Presentation of Childhood Paraganglioma with Seizures: A Case Report and Review of the Literature.","authors":"Elizabeth Eberechi Oyenusi, Uzoamaka Felicia Nwigbo, Oluwadamilola Moromoke Oladipo, Blessing Ebele Kene-Udemezue, Kasarachi Pauline Akowundu, Khadijah Omobusola Oleolo-Ayodeji, Oluwaseun Adunni Afoke, Funmilayo Oluwatoyin Babatunde, Felix Makinde Alakaloko, Gabriel Kolawole Asiyanbi, Ezekiel Olayiwola Ogunleye, Abiola Olufunmilayo Oduwole, Foluso Ebun Afolabi Lesi","doi":"10.1155/2023/6637802","DOIUrl":"10.1155/2023/6637802","url":null,"abstract":"<p><strong>Introduction: </strong>A paraganglioma (PGL) is a tumour derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia of the thorax, abdomen, and pelvis. Cardiovascular manifestations predominate but neurological symptoms like seizures can occur requiring a high index of suspicion for prompt diagnosis and treatment. <i>Case Description</i>. A 14-year-old girl was referred to the paediatric neurology unit for recurrent headaches of one-year duration, vomiting of 2 months duration, and an episode of generalized tonic-clonic seizures, 2 weeks prior to presentation. There was an associated history of impaired vision, palpitations, diaphoresis, and easy fatigability. Her blood pressure ranged from 150/101 to 160/120 mmHg. The brain CT scan was normal. ECG showed left ventricular hypertrophy. Abdominal USS revealed a right para-aortic mass necessitating 24-hour urine normetanephrine which was markedly elevated-1695.34 mcg/24 h (100-500). An abdominal CT scan confirmed a paraganglioma in the right para-aortic region. A multidisciplinary team consisting of paediatric endocrinologists, radiologists, anaesthetists, paediatric and cardiothoracic surgeons, and the intensive care unit (ICU) team was involved in the peri and postoperative management of the child. Intraoperative challenges were hypertension and hypotension (following tumour excision). She was nursed in the ICU for 48 hours. Histology results confirmed paraganglioma. Postoperative urine normetanephrines done a month after surgery had reverted to normal. Her blood pressure has remained normal 6 months after surgery, and no other symptoms have recurred.</p><p><strong>Conclusion: </strong>In evaluating aetiology of childhood hypertension, endocrine causes must be considered though they are rare. The occurrence of paraganglioma is uncommon and can present in unusual ways such as seizures. Measurement of blood pressure in children is advocated as part of routine health care. Clinicians must explore the aetiology of seizures and not merely control them with anticonvulsant therapy.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"6637802"},"PeriodicalIF":1.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138497938","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}