Endocrinology, Diabetes and Metabolism Case Reports最新文献

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.

Summary: Alkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency in homogentisate 1,2-dioxygenase (HGD), leading to the accumulation of homogentisic acid (HGA) in connective tissues, cartilage, and bones. This accumulation results in multisystem involvement, including early-onset spondyloarthropathy. We present a 54-year-old female from South Tyrol with chronic back and knee pain, accompanied by typical signs of alkaptonuria: ochronosis and darkening of the urine. Molecular genetic testing confirmed the diagnosis of alkaptonuria and identified a previously unreported mutation. Following treatment with nitisinone, a protein-restricted diet, and therapy for osteoporosis, the patient showed significant improvement in symptoms. This case underscores the need to consider rare metabolic disorders in the differential diagnosis of chronic musculoskeletal pain and highlights the importance of early diagnosis and intervention for effective management.

Learning points: In cases of early or unexplained degenerative spinal and joint changes in younger individuals, consider secondary metabolic causes. In the presence of the symptom triad - ochronosis, dark urine, and arthropathy - alkaptonuria should be suspected. Alkaptonuria is caused by a rare autosomal recessive defect in homogentisate 1,2-dioxygenase, leading to accumulation of homogentisic acid, which primarily results in the destruction of joints and heart valves. Diagnosis is established through biochemical testing and molecular genetic analysis of the HGD gene. Therapeutic options now include nitisinone as a causal treatment (available since 2020); however, due to often delayed diagnosis, symptomatic management and treatment of sequelae (pain control, joint care, and osteoporosis therapy) continue to play a major role.

Summary: HDR syndrome is a rare, heterogeneous genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. The defect in most patients is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. HDR syndrome is also associated with several atypical features, including eye, skin, neurological, cardiac, gastrointestinal, and urogenital involvement. We report the case of a 27-year-old Caucasian woman with HDR syndrome (GATA3 NM_001002295.1: c.977C>A p. (Thr326Asn)), who presents with multiple atypical associated features. She has also had recurrent benign ovarian cystic teratomas, although it is unclear whether these are related to HDR syndrome, as this has never been reported.

Learning points: HDR syndrome is a rare autosomal genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. It may be associated with atypical features involving various organs, which will require investigation and management. There is a paucity of evidence and guidance on managing hypocalcaemia in HDR syndrome. Given that HDR syndrome causes agenesis rather than a receptor issue, calcium levels should be targeted between 2.0 and 2.2 mmol/L, similar to the management of hypoparathyroidism caused by surgery or autoimmune disease.

Summary: Treatment-induced neuropathy of diabetes (TIND) refers to the acute onset of neuropathic symptoms in patients with poorly controlled diabetes, typically as a consequence of an abrupt change in glucose levels during medical management. We present the case of a 50-year-old female with a long-standing history of poorly controlled type 2 diabetes mellitus (T2DM) complicated by progressive lower extremity weakness and associated paresthesias. Comprehensive workup was unremarkable, and symptoms could not be controlled with muscle relaxant therapies. Further chart review revealed an abrupt drop in HbA1c levels roughly 6 months before her admission. The temporal association between the rapid lowering of HbA1c and the emergence of neurological signs strongly suggested the diagnosis of TIND, which was confirmed by EMG studies. A syncopal episode further complicated the patient's clinical course, and she was found to be orthostatic during hospital admission. The patient was started on duloxetine and given an increased dose of gabapentin, which improved her symptoms.

Learning points: TIND is an acute small-fiber neuropathy caused solely by iatrogenic factors and is often unrecognized as a complication of diabetes management. Neuropathic and autonomic symptoms worsen as both the magnitude and rate of change in HbA1c levels increase. Clinicians should be mindful of complications from rapidly lowering glucose levels and aim for an HbA1c reduction of less than 2 percentage points over 3 months.