Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: We describe a case of a 42-year-old gentleman, 5 years post-transsphenoidal surgery (TSS) for pituitary-dependent Cushing's disease, initially presenting with malignant hypertension. Despite an initial improvement in his blood pressure post-TSS, he was found to be persistently hypertensive on follow-up despite no clinical or biochemical evidence of recurrence of hypercortisolism. His blood pressure remained elevated despite five antihypertensive agents. His renin concentration was <5 mIU/L (9-103.5) and aldosterone concentration was 877 pmol/L (0-670). A subsequent CT of the adrenals showed a 1.2 cm left adrenal nodule. He was not suitable for adrenal vein sampling (AVS) at this time due to difficult-to-control hypertension. Biochemistry was difficult to interpret in the context of a multitude of interfering medications, which were necessary given his difficult-to-control hypertension and hypokalaemia. Once suitable, his initial AVS was unsuccessful due to failure to cannulate the right adrenal vein. He was given the further options of repeat AVS vs 11C-metomidate PET vs medical management of his blood pressure. He proceeded with a repeat AVS, with successful cannulation of both adrenal veins. This showed evidence of hyperaldosteronism on the left side, with a lateralisation index of 39.5 and a contralateral suppression index of 0.28. He proceeded with a robotic left adrenalectomy, leading to significant improvement in his blood pressure, dropping from a mean reading of 142/85 during daytime and 150/88 mmHg at nighttime on five antihypertensive agents to normotensive levels of 114/77 mmHg on two agents.

Learning points: It is important to consider a broad differential for uncontrolled hypertension. It must be considered that patients can present with multiple, isolated endocrinopathies. There are diagnostic challenges with primary aldosteronism, with medication regimens regularly effecting suitability of testing and interpretation of results. AVS can be a challenging procedure, leading to diagnostic challenges in the lateralisation of primary aldosteronism; however, it or another form of lateralisation is essential to guide management options.

Summary: Dysthyroid optic neuropathy (DON) is the most serious complication associated with Graves' orbitopathy (GO). The primary treatment approach for DON is high-dose intravenous methylprednisolone infusion and decompression surgery. However, not all patients are suitable candidates for or can tolerate these two treatment options. Here, we present a patient diagnosed with DON in the left eye and central serous chorioretinopathy (CSC) in the right eye. Considering that glucocorticoids are contraindicated for CSC and that the patient refused orbital surgery, we opted for intravenous tocilizumab (6 doses of 8 mg/kg every 4 weeks), a monoclonal antibody against the interleukin-6 receptor. After tocilizumab infusion, the disease severity in the left eye improved from DON to moderate to severe GO, with magnetic resonance imaging showing a considerable reduction in inflammation in all affected muscles. Moreover, no adverse effects were observed in this patient. Similarly, two case reports and an observational study including nine patients with DON showed good clinical results after tocilizumab infusion, with no adverse effects having been observed. Our patient was primarily treated with tocilizumab just like one of the previous cases who had uncontrolled diabetes. Tocilizumab could potentially be considered one of the treatment options for DON patients, especially those in whom glucocorticoid therapy is inappropriate. Nonetheless, high-quality studies are warranted to verify the indications for this treatment.

Learning points: Not all patients with DON are suitable candidates for or can tolerate intravenous methylprednisolone infusion. Tocilizumab, a monoclonal antibody against the interleukin-6 receptor, has been recommended as the second-line option for patients with active moderate to severe steroid-resistant GO. Tocilizumab could potentially be considered one of the treatment options for DON patients, especially those in whom glucocorticoid therapy is inappropriate.

Summary: Patients with diabetes require regular blood glucose monitoring. We evaluated the precision and user performance of two blood glucose monitoring systems, the accuracy results of GlucoTeq BGM200 and DiaRite BGM300, adhering to the EN_ISO 15197:2015 standards, which require blood glucose ≥100 mg/dL, >95% of the data within ±15% difference, and when blood glucose <100 mg/dL, >95% of the data within ±15 mg/dL. This study assessed their conformity with the YSI analyzer and other leading systems. Participants (n = 101), 18 years of age were included, covering a diverse demographic. Accuracy was determined using the YSI analyzer as the standard, employing linear regression, a consensus error grid and Bland-Altman analyses. The performance of both system users showed 100% conformity within zone A of the consensus error grid, high linear regression coefficients and minimal bias in the Bland-Altman analysis. Subjective satisfaction analyses showed average scores of 4.59 and 4.62 for BGM200 and BGM300, respectively. Comparison with other systems revealed high regression coefficients (CONTOUR®PLUS; R 2 = 0.9960, BGM200; R 2 = 0.9927, BGM300; R 2 = 0.9915, Accu-Chek® Guide; R 2 = 0.9910). Both systems demonstrated reasonable accuracy and user performance comparable to competitors' products and met international standards. Their reliability in real-world scenarios and high user satisfaction make them valuable tools for diabetes management.

Learning points: Reasonable accuracy: GlucoTeq BGM200 and DiaRite BGM300 complied with EN ISO 15197:2015 standards, achieving >95% accuracy validated against the reference method the YSI analyzer. High user satisfaction: both systems scored highly (4.59-4.62/5), reflecting ease of use, reliable operation and clear result interpretation. Competitive performance: comparable to leading devices such as CONTOUR®PLUS, with strong correlation coefficients (>0.99). Regulatory compliance: the trial met stringent international standards with a diverse participant group and robust methodology. Broad applicability: reliable for clinical and home use, supporting effective diabetes management.

Summary: We report a 3.7-year-old female who presented with clinical features of premature adrenarche. Workup revealed significantly elevated androgen levels and advanced bone maturation, prompting abdominal imaging that identified a 6.0 cm adrenal mass. She underwent unilateral adrenalectomy, and subsequent histopathology revealed a benign oncocytic adrenocortical adenoma. Post-adrenalectomy, androgen levels returned to pre-pubertal levels. A review of the literature on pediatric oncocytic adrenocortical neoplasms (OANs) is presented, and we add our case to the growing data of this rare disease in the pediatric population.

Learning points: A high index of suspicion is necessary when encountering a prepubertal child with clinical signs of hyperandrogenism and advanced bone age. Oncocytic adrenocortical neoplasms are rare in children and are often benign, although they can be malignant or of uncertain malignant potential. Adrenalectomy is necessary for histopathological diagnosis and definitive treatment. Pediatric oncocytic adrenocortical neoplasms are typically associated with elevated androgens; however, they can have a variety of other abnormal hormonal profiles at presentation. Return to normal hormonal levels is common post-adrenalectomy.

Summary: The case report outlines a 33-year-old woman with neurofibromatosis type 1 (NF1) presenting complex symptomatology including a cervical mass, bone pain and significantly elevated calcium and parathyroid hormone levels, indicative of parathyroid carcinoma accompanied by cystic fibrous osteitis. Intriguingly, an incidental finding of an adrenal nodule prompted investigation, leading to the diagnosis of pheochromocytoma. Surgical intervention confirmed the presence of pheochromocytoma and parathyroid carcinoma. Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. The patient's clinical manifestations, coupled with the presence of café-au-lait spots and axillary freckles, supported the diagnosis of NF1. This case not only highlights the challenging diagnostic landscape of NF1 but also underscores the rarity of the co-occurrence of parathyroid carcinoma and pheochromocytoma within the context of NF1. It emphasizes the necessity for heightened clinical suspicion and comprehensive evaluation in patients with NF1, particularly in those presenting with endocrine abnormalities. Further investigation into the underlying mechanisms linking these conditions is warranted to elucidate their pathophysiological interplay and inform optimal therapeutic strategies for affected individuals. This case underscores the importance of multidisciplinary collaboration in the management of complex NF1-associated manifestations, with an emphasis on early detection and tailored intervention to optimize patient outcomes.

Learning points: Rare but real: multiple endocrine tumors can coexist in patients with neurofibromatosis type 1 (NF1), not only pheochromocytoma. Early detection matters: prompt diagnosis and a multidisciplinary approach are crucial for managing NF1 patients presenting with symptoms suggestive of these rare endocrine tumors. Genetic insights guide care: genetic testing aids in confirming NF1 and guiding treatment decisions, emphasizing the role of genetics in personalized medicine for NF1 patients.

Summary: Cushing syndrome (CS) is an endocrine disorder with far-reaching complications that extend beyond the disease remission. Diagnosis of the aetiology of CS can be challenging, whether it is dependent or independent of adrenocorticotrophic hormone (ACTH). Here, we describe a case of ACTH-independent CS due to primary pigmented nodular adrenocortical disease (PPNAD) in a 33-year-old female patient with several complications of CS, including diabetes, hypertension, osteoporosis and severe depression with suicidal ideation. In this case, following the demonstration of ACTH independence of CS, it was challenging to localise the lesion as there were bilateral adrenal lesions. Furthermore, preoperative efforts in localisation in the form of adrenal venous sampling (AVS) failed. However, the diagnosis of PPNAD was confirmed using an intraoperative frozen section and macroscopy, and the patient underwent bilateral adrenalectomy during the same surgery. This case highlights a novel approach to diagnosing and managing PPNAD intraoperatively in a resource-limited setting where preoperative localisation studies have failed.

Learning points: AVS can assist in localising the functional lesion in ACTH-independent CS due to bilateral adrenal lesions. PPNAD diagnosis can be made through a frozen section intraoperatively, thus giving further confirmation needed to justify bilateral adrenalectomy in such cases.

Summary: Heterozygous insulin receptor (INSR) mutations cause type A insulin resistance (IR), associated with a phenotype of IR; hyperandrogenism, oligomenorrhoea and acanthosis nigricans in the absence of obesity or lipoatrophy. The phenotype is variable, ranging from neonatal hyperinsulinaemic hypoglycaemia to fasting or post-prandial hypoglycaemia in adults to diabetes. We report a 29-year-old woman presenting at 13 weeks gestation in her second pregnancy. Diabetes was diagnosed at 13-years-old following presentation with lethargy and polyuria and she was treated with metformin 500 mg po bd. She also had polycystic ovarian syndrome, hypothyroidism and epilepsy. Metformin was changed to insulin with good glycaemic control throughout pregnancy. She delivered a 3.95 kg male infant at 39 weeks gestation without neonatal hypoglycaemia. At 18 months post-partum, her body mass index was 26.3 kg/m2, with no evidence of acanthosis nigricans or features of lipodystrophy. As her sister was also diagnosed with diabetes at 13-years-old, next-generation sequencing was performed for known maturity onset diabetes of the young (MODY) genes and a p.(Met1180Lys) mutation in the INSR gene was detected. She reported nocturnal hypoglycaemia and a 5-h oral glucose tolerance test revealed post-prandial hyperinsulinaemic hypoglycaemia at 210 min. Her subsequent pregnancy was spontaneously treated with metformin 500 mg po od from 8 to 25 weeks gestation and discontinued due to intrauterine growth restriction. She delivered a 1.8 kg female infant at 34 plus 3 weeks gestation (25th centile) via elective caesarean section. The infant had transient neonatal hypoglycaemia for two days. Post-partum, she remains diet controlled, with a haemoglobin A1c of 32 mmol/mol. This case highlights the importance of genetic testing to establish optimal diabetes treatment.

Learning points: This case highlights the less severe phenotype of IR in a subject with an INSR p.Met1180Lys mutation. It demonstrates the existence of symptomatic post-prandial hypoglycaemia in an adult subject associated with hyperinsulinaemia. This case highlights the importance of genetic testing to establish diagnosis and allows for precision medicine. The role of metformin use in Type A-IR and pregnancy needs to be established.

Summary: Type 2 diabetes (T2D) is a chronic metabolic disorder that affects millions of people worldwide, particularly the elderly population. Remission of T2D in elderly patients through lifestyle modifications has been well documented, especially in newly diagnosed patients with good glycemic control and without obesity. It is also common in patients with obesity undergoing bariatric surgery. In this report, we present the case of a 66-year-old male patient with a 30-year history of T2D and mild obesity who achieved remission of T2D through customized integrated intensive lifestyle modifications, including a vegan diet, exercise and psychological support. The patient showed an improvement in HbA1c (7.7 to 5.3%) and insulin resistance (HOMA-IR; 6.2 to 1.8) and a shift in BMI (25.3 to 23.7 kg/m2) through weight loss (73 to 67 kg). The patient remains in remission 33 months after the completion of the intervention. This case suggests the possibility of long-term remission with lifestyle changes in patients with advanced age, a longer duration of diabetes and mild obesity.

Learning points: Long-term sustained remission is possible in a geriatric patient with long-standing type 2 diabetes (T2D) of more than 30 years. Customized integrated intensive lifestyle intervention can lead to a significant improvement in glycemic control and insulin resistance in elderly patients with T2D. Integrated lifestyle interventions, including a vegan diet, exercise and psychological support, have the potential to stop the usage of oral hypoglycemic agents and insulin in an elderly patient with a prolonged history of T2D and mild obesity.

Summary: Rett syndrome (RS) is an X-linked neurodevelopmental disorder primarily affecting females. RS and diabetes mellitus (DM) type 1 are rare disorders with distinct etiologies. Although some cases of RS complicated by DM type 1 have been reported, the association between these distinct conditions is poorly understood and warrants further studies to elucidate the underlying mechanisms and inform clinical management. We report the case of a 10-year-old girl diagnosed with RS and DM type 1. The patient initially presented at 3 years of age with polydipsia, polyuria and decreased appetite over several weeks. Physical examination showed signs of dehydration, and laboratory evaluation revealed hyperglycemia, elevated HbA1c, glycosuria, ketonuria and low C-peptide levels. Anti-glutamic acid decarboxylase antibodies were positive, confirming autoimmune DM type 1. Fluid resuscitation and insulin therapy were initiated with good glycemic control on continuous subcutaneous insulin infusion. A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. Clinical features, including breathing abnormalities, bruxism, abnormal tone and inappropriate laughing, met the diagnostic criteria for RS. This is the reported first case of RS with a confirmed MECP2 mutation complicated by DM type 1. Our case report contributes to the increasing evidence supporting the potential association between RS and DM type 1.

Learning points: There is a possible link between RS and DM type 1. This is the first case report of RS with a confirmed MECP2 mutation complicated by DM type 1. In cases where patients with RS develop diabetic ketoacidosis, it may manifest as mild acidosis or normal pH despite the presence of high blood sugar levels and dehydration.

Summary: Solid pseudopapillary neoplasm (SPN) is classified as an epithelial tumor identified from benign to low-grade malignant tumor. It is a relatively rare tumor among various pancreatic tumors and is generally observed in young women. Therefore, the identification of an SPN should be considered in cases where a solid/cystic mass is detected in the pancreas of a young woman. Distal pancreatectomy is performed for a large size of SPN located in the tail of the pancreas. Here, we report a 15-year-old Japanese female who brought about Type 3C diabetes mellitus (T3C-DM) after a distal pancreatectomy due to SPN. This case highlights the importance of management after pancreatectomy to detect early T3C-DM and prevent its development even in young patients. Although it is not surprising that a massive pancreatic tumor or pancreatectomy can lead to pancreatic diabetes at any age, we believe that it is important for clinicians to know this subject for educational purposes.

Learning points: SPN is a relatively rare tumor that accounts for 1-3% of all pancreatic tumors and is predominantly located in the tail of the pancreas.Since SPN is generally observed in young women, the presence of an SPN should be considered in cases where a solid/cystic mass is detected in the pancreas of a young woman.Pancreatic DM after pancreatectomy is classified as T3C-DM in the American Diabetes Association (ADA) classification.This case indicates that even in young individuals, it is important to consider the possibility of impaired glucose tolerance after distal pancreatectomy.