Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: Intravascular large B-cell lymphoma is an uncommon haematological condition that may present with a variety of non-specific symptoms and signs. In this report, we discuss the case of a man in his 70s who presented with subacute cognitive and functional decline. Subsequent investigation revealed hyponatraemia secondary to syndrome of inappropriate antidiuresis (SIAD), as well as hypopituitarism. The underlying aetiology for his condition was not discovered until postmortem examination following his death from respiratory failure, which demonstrated intravascular lymphoma involving multiple organs, including the brain, dura and pituitary. As such, this case represents the challenging diagnosis of a rare cause of multiple endocrinopathies.

Learning points: Intravascular lymphoma is a rare diagnosis, often presenting with non-specific symptoms and biochemical derangements. This condition should be considered as a differential diagnosis for hypopituitarism, presenting in isolation or in combination with the syndrome of inappropriate antidiuresis. A broad and multisystem differential diagnosis should be considered for any patient presenting with endocrinopathy.

Summary: This case report describes a 55-year-old male with hypothyroidism who presented with chest pain, elevated cardiac biomarkers (creatine kinase-MB (CK-MB) and troponin T), and abnormal electrocardiogram (ECG), findings suggestive of acute coronary syndrome (ACS). Despite clinical suspicion of myocardial ischemia, coronary angiography revealed no significant coronary artery disease. Profound hypothyroidism, confirmed by markedly elevated thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase antibodies, was identified as the underlying cause of the cardiac biomarker abnormalities. Treatment with thyroxine resulted in clinical improvement and normalization of cardiac markers. This case underscores the importance of considering hypothyroidism in the differential diagnosis of elevated cardiac enzymes and ischemic symptoms in the absence of coronary artery disease.

Learning points: Hypothyroidism should be considered in patients presenting with ischemic symptoms and elevated cardiac biomarkers, in the absence of coronary artery disease. Elevated CK-MB and troponin in hypothyroidism may result from non-cardiac mechanisms, posing significant diagnostic challenges. Thyroid function tests should be routinely included in the diagnostic evaluation of patients with atypical presentations of myocardial injury. Timely diagnosis and management of hypothyroidism can help avoid misdiagnosis and unnecessary invasive interventions.

Summary: Functional constipation is a common condition in infants. Phosphate-containing enemas (PCEs) are contraindicated in neonates due to the significant risk of severe electrolyte disturbances. We report a case of a 28-day-old neonate presenting with constipation and vomiting following the administration of PCEs. This resulted in hyperphosphatemia, hypocalcemia, and a prolonged QTc interval - critical conditions requiring urgent intervention. Management included hyperhydration, intravenous calcium gluconate, and oral alfacalcidol, which led to complete clinical recovery within 60 h. This case underscores the serious risks associated with inappropriate use of over-the-counter PCEs in neonates, even in the absence of underlying health conditions. It also highlights the importance of early recognition and effective supportive therapy to mitigate potential life-threatening complications.

Learning points: Irritability and ECG anomalies can be the only signs and symptoms of severe acute hyperphosphatemia after administration of PCE. Clinicians should be aware of the risk of severe acute hyperphosphatemia after PCE administration in infants, even without comorbidities, due to a low PTH status. When symptomatic hypocalcemia occurs, intravenous calcium administration is warranted, as the risk of life-threatening consequences from hypocalcemia significantly outweighs the risk of developing metastatic calcifications.

Summary: We report the case of a 62-year-old male who developed progressive lower limb and bulbar muscle weakness associated with elevated creatine kinase (CK) levels on a background of statin use following myocardial infarction. Electromyography, magnetic resonance imaging of thigh musculature, and muscle biopsy supported a diagnosis of necrotising myositis. Subsequently, antibodies to 3-hydroxy-3-methylglutaryl-CoA reductase were positive, confirming immune-mediated necrotising myositis (anti-HMGCR IMNM). An adrenal nodule detected on computed tomography of the thorax-abdomen and pelvis was confirmed to be a phaeochromocytoma following dedicated adrenal imaging and functional hormonal work-up, resulting in the second diagnosis. In-hospital treatment of the myositis consisted of intravenous immunoglobulin and methylprednisolone pulse therapy followed by high-dose oral steroids and mycophenolate therapy. He developed steroid-induced diabetes requiring insulin. After intensive rehabilitation and optimisation of blood pressure with alpha-blockade, he underwent a successful adrenalectomy for the phaeochromocytoma. Subsequently, immunosuppression was weaned, and the patient regained full muscle strength.

Learning points: Immune-mediated necrotising myopathy (IMNM) should be considered in patients with a history of statin use presenting with muscle weakness and elevated creatine kinase that fails to improve after statin cessation. Early diagnosis and immunosuppressive therapy are crucial in preventing permanent muscle damage. When IMNM is suspected clinically, work-up should include prompt testing for anti-HMGCR antibodies in serum. Rare conditions can co-exist, and multidisciplinary care in managing complex cases improves patient outcome.

Summary: Thyroid storm, also known as thyroid crisis, is a serious medical condition that occurs when there is an extreme overproduction of thyroid hormones. It usually develops in individuals with uncontrolled hyperthyroidism, often due to diseases such as Graves' disease or thyroid adenomas. We herein report a case of a female patient with Graves' disease who presented with thyroid storm and did not respond to conventional treatment, requiring intensive care unit management and mechanical ventilation support. In addition, she was managed with plasma exchange (plasmapheresis), which stabilized her clinical and biochemical parameters. In conclusion, thyroid storm is a critical condition with multiple clinical implications that should be managed using a multidisciplinary approach; moreover, early identification and adequate treatment are essential to reduce its associated morbidity and mortality. Our case indicated that plasmapheresis should be considered for patients refractory to conventional treatment. Once the critical stage of the disease concludes, definitive treatment with total thyroidectomy should be planned.

Learning points: Early recognition and prompt management of thyroid storm can significantly improve patient outcomes. Multidisciplinary care is essential for addressing the systemic effects of thyroid storm. Tailored rehabilitation programs may enhance recovery from associated complications, such as paralysis.

Summary: X-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wasting, reduced 1,25-dihydroxyvitamin D (1,25(OH)2D) levels, and impaired bone mineralization. We describe 26-year-old male monozygotic twins with lifelong skeletal deformities, short stature, and chronic bone pain. Despite hallmark features of rickets, both were misdiagnosed for decades and developed progressive functional impairment. Biochemical investigations revealed persistent hypophosphatemia, elevated alkaline phosphatase, reduced tubular maximum reabsorption of phosphate per glomerular filtration rate (TmP/GFR), normal calcium and parathyroid hormone, and inappropriately normal 1,25(OH)2D. Radiographs showed pseudofractures, consistent with osteomalacia. The twins were born from a triplet pregnancy; their dizygotic female sibling remained asymptomatic and biochemically normal. Genetic analysis revealed a novel de novo hemizygous deletion in exon 22 of PHEX, confirming the diagnosis of XLH. Both patients initiated conventional therapy with oral phosphate and calcitriol, resulting in notable clinical improvement, including restored ambulation and reduced pain. To our knowledge, this is the first documented case of phenotypically concordant XLH in monozygotic twins caused by a previously unreported PHEX mutation. The presentation underscores the risk of diagnostic delays in XLH, particularly in sporadic cases without family history, and highlights the value of early molecular testing in complex skeletal disorders. Timely recognition and treatment of XLH are essential to prevent irreversible complications and improve long-term outcomes, even when initiated in adulthood.

Learning points: XLH should be considered in patients with skeletal deformities, short stature, and recurrent dental abscesses. Diagnosis is frequently delayed due to variable phenotype and misdiagnosis as nutritional rickets or isolated orthopedic conditions. Biochemical findings of isolated hypophosphatemia with inappropriately normal 1,25(OH)2D levels should prompt evaluation for FGF23-mediated phosphate-wasting conditions. In cases without family history, genetic testing remains essential to confirm XLH and may reveal de novo mutations with clinical and research relevance. Conventional therapy with phosphate and calcitriol may lead to meaningful clinical improvement, including restored mobility, even in adults with long-standing disease. This case contributes to the understanding of genotype-phenotype relationships in XLH, highlighting the potential value of twin studies in elucidating the genetic and non-genetic modifiers of disease expression.

Summary: We explored the challenges associated with the localization of insulinomas, pancreatic neuroendocrine tumors responsible for hypoglycemia. Insulinomas often present with varied symptoms, leading to potential diagnostic delays. While biochemical evidence confirms the presence of insulinomas, precise preoperative localization remains challenging despite advanced imaging techniques. Our study highlights contradictory findings between intra-arterial calcium stimulation tests and 68Ga-NODAGA-Exendin-4-PET/CT in two cases of insulinoma where conventional imaging studies did not reveal the location. We demonstrate that in these cases, surgical exploration resolved the discrepancies and led to a resolution of the disease. Our results also suggest a potential need to revise the threshold for intra-arterial calcium stimulation tests to enhance diagnostic accuracy. This short report emphasizes the complexity of insulinoma localization and the necessity for integrating multiple diagnostic approaches to achieve optimal patient care.

Learning points: Diagnosis of insulinoma can be delayed and complicated by unspecific symptoms and difficulties in the localization techniques. There are different methods for preoperative insulinoma localization which may render conflicting results. When conventional imaging studies do not reveal the location and advanced imaging techniques and metabolic tests show discrepant results, surgical exploration may resolve the discrepancies and lead to a resolution of the disease. It is necessary to integrate multiple diagnostic approaches to achieve optimal patient care.

Summary: Acute hepatitis was reported in a 10-year-old male patient with type 1 diabetes, believed to be due to hepatic glycogenosis from insulin overdose and oral glucose administration. Liver function abnormalities, including increased ALT, AST, and GGT, were observed without any abnormality in liver ultrasound. After detailed investigation, it was discovered that the patient was dosing himself with additional insulin to induce hypoglycemia. Close monitoring by the GluCare.Health hybrid platform and CGM was done along with further education about insulin doses, hypoglycemia, and hyperglycemia treatment. No specific pharmacological treatment was needed to treat hepatitis and the patient's liver enzymes normalized with the GluCare continuous care model.

Learning points: Importance of hybrid care models: hybrid care models allow for continuous tracking, closing the feedback loop that is currently missing from traditional clinical practice, leading to better patient outcomes through continuous engagement, monitoring, and timely adjustments. Risk of hepatitis from glucose overload: excessive glucose intake following a significant insulin overdose can lead to hepatitis due to the overaccumulation of glycogen. Balancing glucose administration: while the risk of hypoglycemia-induced neurological damage is a major concern, glucose administration should be carefully adjusted based on closely monitored blood glucose levels. Awareness of acute hepatitis: acute hepatitis as a complication of substantial insulin overdose and excessive glucose administration is a rare occurrence that endocrinologists should be aware of. Importance of monitoring liver enzymes: specific treatment may not be necessary; however, monitoring liver enzymes is essential to ensure they return to normal levels. Challenges in diagnosing factitious insulin use: diagnosing factitious insulin use in children and adolescents is challenging, as many patients may deny it, and parents may find it hard to believe. Careful and sensitive questioning is necessary.

Summary: Bariatric surgery and glucagon-like peptide-1 receptor agonist medications (GLP-1RAs) are common and effective methods for treating obesity. Since bariatric surgery is associated with an increased risk of malnutrition, there are extensive post-operative dietary recommendations and nutritional monitoring guidelines. There is, however, less evidence regarding the risk of malnutrition with GLP-1RAs and little research on the use of GLP-1RAs in patients post-bariatric surgery. We present a clinical case in which a 39-year-old male on semaglutide therapy presented with severe weakness and inability to ambulate. His symptoms had developed over the prior 3 months following transoral outlet reduction surgery and worsened with an increase of his semaglutide dose to 1.7 mg/week. Physical examination demonstrated severe distal-predominant bilateral lower extremity weakness, loss of lower extremity reflexes, and impaired sensation distal to the T4 dermatome. Laboratory serum testing revealed thiamine and vitamin E deficiencies. Lumbar magnetic resonance imaging demonstrated mild homogeneous enhancement of the cauda equina nerve roots, neural foraminal narrowing, and disc protrusions without significant spinal canal stenosis. Given the absence of structural abnormalities, he was diagnosed with lumbosacral polyradiculopathy due to micronutrient deficiencies. Treatment included discontinuation of semaglutide and initiation of thiamine and vitamin E supplementation. He was admitted for inpatient rehabilitation therapy and demonstrated improvement of motor and sensory symptoms over the next month. With the increasing use of GLP-1RAs, it is crucial for clinicians, dietitians, and pharmacists to understand the risk and pathophysiologic processes of these medications when used in combination with other weight-loss therapies such as bariatric surgery.

Learning points: While there are robust pre- and post-operative micronutrient screening guidelines for patients undergoing bariatric surgery, nutritional monitoring guidelines are limited for patients on GLP-1 receptor agonist therapy or for patients with a history of bariatric surgery who are on GLP-1 receptor agonist therapy. The use of multiple weight-loss therapies that suppress appetite and nutrient intake may increase the risk of micronutrient deficiencies. Micronutrient deficiencies can have severe neurological manifestations, which may be correctable with nutritional supplementation. Avoid initiating GLP-1 receptor agonist therapy in close proximity to bariatric surgery. Further research is needed focusing on patients using multiple weight-loss therapies. This may contribute to the development of specific nutritional and micronutrient monitoring guidelines for this population. Endocrinologists, bariatric surgeons, and primary care providers must work together to care for patients undergoing weight-loss interventions.

Summary: Bronchogenic cysts, developmental malformations of the primitive foregut, extremely rarely occur in the retroperitoneum. Here, we present a retroperitoneal bronchogenic cyst presenting as an adrenal incidentaloma and masquerading clinically as a phaeochromocytoma.

Learning points: Retroperitoneal bronchogenic cysts are exceptionally rare, particularly presenting as adrenal incidentalomas (AI), and can mimic other conditions such as non-functioning phaeochromocytomas. This case emphasises the need to consider rare conditions such as retroperitoneal bronchogenic cysts in the differential diagnosis of AI, especially when imaging findings are unusual despite normal hormonal studies. Atypical adrenal masses still warrant surgical evaluation and histopathological analysis to confirm the diagnosis and exclude rare entities. The occurrence of retroperitoneal bronchogenic cysts highlights the importance of understanding embryogenesis, particularly the migration pathways and foregut development. Histopathological examination remains crucial for diagnosing bronchogenic cysts, as they demonstrate the characteristic ciliated columnar epithelium with subepithelial smooth muscle, seromucinous glands, and cartilage.