Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: Thymic hyperplasia in Graves' disease is rarely identified due to the absence of routine imaging, but not uncommonly present. It is usually seen when imaging is performed for other reasons. Despite thymic hyperplasia becoming a more commonly identified occurrence, follow-up imaging scans and multi-disciplinary team (MDT) approach are still recommended to distinguish this benign transformation from more significant differentials. These steps can lead to distress in patients. Therefore, clinicians and radiologists being aware of this correlation between thymic hyperplasia and Graves' disease can add reassurances about the most likely diagnosis whilst the patient is undergoing limited further investigation to rule out differentials and subsequently, avoid unnecessary intervention. Here, we report a case of Graves' disease with thymic hyperplasia in a young woman who initially presented with non-specific eye symptoms and incidental mediastinal mass, in which involvement of multiple speciality teams was important to rule out thymoma and myasthenia gravis (MG).

Learning points: Although Graves' disease with thymic hyperplasia is not uncommon, it is sometimes difficult to diagnose with one imaging scan due to the overlap of radiological characteristics of other important differentials; an MDT discussion and further imaging scans are needed to confirm the diagnosis in some cases. Getting MDT involvement early would quickly assist in ruling out more significant differentials and avoid unnecessary surgical intervention by concluding thymic hyperplasia. Clinicians having knowledge on the relation between Graves' disease and thymic hyperplasia may reassure the patient by explaining the possible resolution with treatment, while awaiting further MDT discussion. To rule out ocular MG in Graves' disease patients, additional investigations and neurology referral are often required as the serum antibody tests are less sensitive in ocular MG than generalised MG.

Summary: 11β-hydroxylase deficiency (11βOHD) (5-7%) is an uncommon cause of congenital adrenal hyperplasia compared to 21-hydroxylase deficiency (21OHD) (90%). We report a case of a 5-year-old boy who presented with gonadotropin-independent precocious puberty along with hypertension, generalized hyperpigmentation and hypokalemia. 17-hydroxyprogesterone came raised along with low stimulated cortisol. With the unavailability of urinary steroid profiling and serum 11-β deoxycortisol levels, we went ahead with molecular analysis of the patient. It confirmed exon deletion (1-6) of CYP11B1 and exon deletion (8-9) of the CYP11B2 gene, and the diagnosis of 11βOHD was substantiated. The patient was started on oral hydrocortisone tablet and responded promptly regarding blood pressure normalization and hypokalemia resolution. This case highlights the importance of discriminatory features of hypertension and hypokalemia, which can effectively differentiate from 21OHD to 11βOHD clinically. In addition, we have reported a comparatively rare genetic finding of 1-6 exon deletion in the CYP11B1 gene.

Learning points: CYP11B1 OHD should be considered one of the primary differentials for boys presenting with precocious puberty and hypertension. 11βOHD can cause childhood-onset salt-wasting episodes and, later, significant hypertension with precocious puberty. Increased 17-hydroxyprogesterone can be found in both 21OHD and 11 βOHD cases; significant hypertension and hypokalemia are discriminatory clinical findings besides renin, aldosterone assay and molecular analysis. Prompt initiation of glucocorticoids, the mainstay of the treatment of 11βOHD, retards pubertal progression and normalizes blood pressure. Additional antihypertensives can be used in refractory cases.

Summary: Horner's syndrome is a rare condition that results from damage to the oculosympathetic chain. The classical presentation consists of miosis, unilateral ptosis and hemifacial anhidrosis due to a deficiency of sympathetic activity. Although it has been described as a result of different types of trauma, we present the first clinical report of Horner's syndrome that was developed after a fine-needle aspiration puncture of a thyroid nodule. A 48-year-old woman with a non-toxic multinodular goiter underwent an ultrasound-guided fine-needle aspiration for the second time for a nodule located at the right thyroid lobe. Four hours after the procedure, she developed homolateral eyelid ptosis, miosis and enophthalmos and went to the emergency department for observation. Structural causes potentially related to the manifestations were excluded. Horner's syndrome was diagnosed and the patient was discharged with symptomatic measures. Three months after the event, the patient reported partial improvement. We discuss the pathophysiology associated with Horner's syndrome, the association with thyroid diagnostic and therapeutic procedures, clinical presentation, patient management and prognosis. Although fine-needle aspiration of a thyroid nodule has few associated complications, Horner's syndrome should be considered when the patient develops ophthalmologic symptoms. Preventive measures should be observed to minimize its occurrence.

Learning points: Horner's syndrome is a potential complication of diagnostic and therapeutic procedures directed at the thyroid gland, including ultrasound-guided fine-needle aspiration. It is characterized by eyelid ptosis, miosis, enophthalmos and anhidrosis homolateral to the lesion. The diagnosis of Horner's syndrome is clinical after excluding structural causes and establishing the temporal relationship between the procedure and the manifestations. There is no targeted treatment for Horner's syndrome, but it can be prevented.

Summary: Papillary thyroid carcinoma (PTC) in a branchial cleft cyst (BCC) is exceedingly rare. This case report describes a 53-year-old male with a BCC containing PTC. Despite normal preoperative thyroid imaging, total thyroidectomy revealed multifocal bilateral micropapillary thyroid carcinoma with a contralateral metastatic lymph node, suggesting an aggressive disease course. This finding supports the likelihood that thyroid gland carcinoma metastasized to the BCC. However, the possibility of a primary tumor arising from ectopic thyroid tissue within the cyst cannot be excluded. To our knowledge, this is the 11th reported case of papillary thyroid cancer noted in a BCC. The patient underwent successful treatment, including radioiodine ablation, highlighting the importance of thorough diagnostic evaluation and management in such rare presentations.

Learning points: While most BCCs are benign, PTC can very rarely present within BCC. Metastatic PTC with a necrotic lymph node is often misdiagnosed as BCC, both radiographically and histologically. Since PTC arising as a primary tumor from ectopic thyroid tissue within a BCC is extremely rare, total thyroidectomy should be considered even in patients with radiographically normal thyroid to rule out micropapillary primary thyroid tumors. A thyroglobulin assay from the needle washout of a fine-needle aspiration of a BCC may help preoperatively identify differentiated thyroid cancers. Micropapillary thyroid cancers (<1 cm) are usually indolent, but some may show nodal metastases and clinical progression.

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.