Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: Spindle epithelial tumor with thymic-like elements (SETTLE) is an extremely rare tumor that occurs primarily in the thyroid gland. Histologically, SETTLE is characterized by the presence of spindle-shaped epithelial cells and glandular structures. However, it is known that diagnosis via fine-needle aspiration cytology can be challenging. SETTLE predominantly occurs in younger individuals and has a less favorable prognosis compared to differentiated thyroid carcinoma. Therefore, ensuring accurate diagnosis and appropriate treatment is crucial. We encountered a case of spindle epithelial tumor with thymus-like differentiation in a 10-year-old patient for whom the preoperative diagnosis was successfully established through fine-needle aspiration cytology, which facilitated appropriate surgical resection. Comprehensive histopathological examination and immunohistochemical analysis are essential to ensure appropriate management and surveillance of SETTLE.

Learning points: A rare thyroid tumor, spindle epithelial tumor with thymic-like elements (SETTLE), was diagnosed preoperatively and treated surgically. SETTLE presents with characteristic histological features that must be recognized for accurate diagnosis. In addition, diagnosis through cytology is often challenging. The primary treatment for SETTLE is surgical intervention as radiotherapy and pharmacological treatments are generally not expected to be highly effective. Radical resection is the only effective treatment, making the selection of the surgical procedure according to the stage of the disease essential.

Summary: A 67-year-old Caucasian woman with a history of Graves' disease and atrial fibrillation presented with severe symptoms indicative of an impending thyroid storm, including diarrhea, tremors, palpitations and significant weight loss. Initially treated with methimazole, she was switched to propylthiouracil (PTU) due to an allergic reaction but had to discontinue PTU after developing agranulocytosis. Laboratory tests confirmed suppressed thyroid-stimulating hormone and elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels, alongside neutropenia. The medical team administered high-dose intravenous steroids and granulocyte colony-stimulating factor (G-CSF) in response to her worsening condition and to mitigate infection risk. Despite these measures, her thyroid hormone levels remained high, necessitating therapeutic plasma exchange (TPE). This intervention significantly reduced her thyroid hormone levels and thyrotropin receptor antibodies (TRAb), stabilizing her condition. Post-TPE, she underwent successful radioactive iodine therapy (RAI), which led to a gradual return to euthyroid status and substantial symptomatic relief. Three months post-RAI, she maintained a stable euthyroid state with normalized neutrophil counts, demonstrating the effectiveness of a multidisciplinary approach in managing impending thyroid storm complications. This case highlights the importance of timely and integrated therapeutic interventions in managing life-threatening endocrine emergencies.

Learning points: This case highlights the importance of early recognition and management of agranulocytosis induced by antithyroid drugs, particularly in the context of Graves' disease. Therapeutic plasma exchange (TPE) can be an effective bridging therapy for rapid thyroid hormone reduction in thyroid storm, especially when conventional treatments are insufficient or contraindicated. Quick and effective intervention is essential in managing thyroid storm to prevent systemic decompensation, highlighting the importance of a timely and coordinated treatment approach. The role of TPE in managing severe hyperthyroidism underscores the need for flexibility and innovation in critical endocrine emergencies.

Summary: Clinical management of congenital hyperinsulinism (CHI) remains a significant challenge due to its complex pathophysiology and the limitations of available therapies. Dasiglucagon, a synthetic glucagon analog, represents a novel approach to managing CHI, particularly in patients where conventional therapies fail. This report discusses a rare case of prolonged continuous subcutaneous dasiglucagon use in a neonate with CHI. Despite initial stabilization of glycemic levels, the patient developed necrolytic migratory erythema (NME), a rare dermatological condition associated with hyperglucagonemia, during dasiglucagon therapy. The patient further experienced severe malnutrition, zinc and amino acid deficiencies, and sepsis. Following the discontinuation of dasiglucagon therapy due to these severe side effects, the patient's skin and nutritional status improved markedly. However, glycemic control required subtotal pancreatectomy. This report underscores the potential of dasiglucagon in CHI management but highlights the importance of close monitoring during prolonged therapy.

Learning points: NME, a rare but severe condition, appears to be associated with prolonged continuous subcutaneous dasiglucagon therapy, requiring early recognition and intervention. Close monitoring is essential during prolonged continuous subcutaneous dasiglucagon therapy to detect potential adverse effects, focusing on dermatological conditions, nutrient deficiencies or signs of infection. Multidisciplinary care is crucial to manage CHI with dasiglucagon, ensuring a comprehensive approach that addresses both glycemic control and potential side effects.

Summary: The new European Society of Endocrinology guidelines on the management of adrenal incidentalomas suggest discussion in a multidisciplinary meeting and consideration of additional imaging for homogenous lesions with a density >20 Hounsfield units (HU) and size <4 cm. We report a case of a 29-year-old woman who presented with benign-looking lesion on CT adrenals based on washout values, which was diagnosed as malignant on subsequent imaging. Initial hormonal work-up was normal. Two years later, the lesion had grown to 17 × 11 cm. Repeat hormonal work-up showed a raised urinary steroid profile and androstenedione along with an abnormal overnight dexamethasone suppression test. Our case report highlights a lesion being classified as benign based on washout recommendations subsequently diagnosed as adrenocortical carcinoma. We have reviewed our current clinical cohort and literature to assess the impact of the updated European guidelines on our practice, with particular reference to the use of HU.

Learning points: For the assessment of adrenal incidentalomas, CT washout values have limitations and should be interpreted with caution. Additional imaging may be required for lesions above 10 HU and this can vary according to centre expertise and availability. An adrenal lesion with a high HU value warrants follow-up imaging even if post-contrast washout values favour an adenoma. Adrenal incidentaloma are less common in younger patients, but are more likely to be clinically significant and/or malignant, so clinicians should have a lower threshold for surgery or interval imaging in indeterminate cases.

Summary: We present a rare case of a 19-month-old boy with trisomy 13 who initially presented with hyperinsulinemic hypoglycemia (HH) at 1 month of age and later developed type 1 diabetes mellitus (T1DM). While cases of HH or T1DM alone have been reported in trisomy 13 patients, this is the first known report of both conditions occurring sequentially in a single individual. No previous reports have described the sequential progression from HH to T1DM in any population, highlighting this as an unprecedented clinical observation. This case underscores the complex nature of metabolic disorders in trisomy 13 and provides insights into the underlying mechanisms linking this chromosomal anomaly to the development of both HH and T1DM.

Learning points: Sequential progression from HH to T1DM in both trisomy 13 and the general population is unprecedented. The coexistence and progression of HH and T1DM underscore the intricate and multifaceted nature of metabolic disorders in trisomy 13. Routine monitoring of blood glucose and C-peptide levels may facilitate the detection of metabolic transitions in patients with trisomy 13.

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.