Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: A 56-year-old male presented to hospital with vomiting and was admitted for management of suspected aspiration pneumonia. His medical history was significant for a diagnosis of cerebral palsy and intellectual disability and he had suffered regular generalised tonic-clonic seizures (GTCS) since birth, despite multimodal anticonvulsant treatment. During his admission, his capillary blood glucose was noted to be 1.6 mmol/L during a seizure. Subsequent investigations confirmed hyperinsulinaemic hypoglycaemia secondary to diffuse pancreatic nesidioblastosis. His seizure disorder completely resolved when management of nesidioblastosis achieved consistent normoglycaemia.

Learning points: All patients who suffer seizure should have a blood glucose measured. Unrecognised hypoglycaemia in a neonate or infant confers a high risk of subsequent neurological damage. Persistent hyperinsulinaemic hypoglycaemia (PHH) in adults is highly likely to be caused by insulinoma, but diffuse pancreatic hyperinsulinism, particularly after bariatric surgery, should also be considered. Medical therapy of endogenous hyperinsulinaemic hypoglycaemia is complex, requiring intensive monitoring.

Summary: A 39 year old female with signs of hyperandrogenism, was diagnosed with congenital adrenal hyperplasia after a cortrosyn test. Abdominal tomography showed a nodular image in the right adrenal gland, measuring 1.9 × 3.1 cm, 26 UH. Screening for Cushing's syndrome and pheochromocytoma was negative. Due to the maternal family history of MEN2A, RET gene testing was performed (positive), and screening for medullary thyroid carcinoma (MTC) with calcitonin was <2 pg/mL. As the patient's father passed away due to complications of peptic ulcers and hailed from a region with high rates of MEN1, PTH and calcium levels were checked, confirming the diagnosis of primary hyperparathyroidism (pHPT). Genetic investigation for MEN1 was positive, and an MRI of the pituitary gland revealed a non-producing macroadenoma. Management of pHPT and total prophylactic thyroidectomy were recommended, with an expectant approach regarding the adrenal lesion. Histopathological examination of the thyroid revealed papillary microcarcinoma in the right lobe and parafollicular cell hyperplasia in two foci, with immunohistochemistry consistent with MTC.

Learning points: There may be the coexistence of three rare and complex genetic syndromes in a single patient. Multiple endocrine neoplasia syndromes describe a group of heterogeneous diseases. Hyperparathyroidism is common among multiple endocrine neoplasia syndromes.

Summary: Neonatal hypoglycemia is a metabolic disorder affecting approximately 5-15% of newborns and is a risk factor for adverse neurological outcomes. The most common cause of hypoglycemia is hyperinsulinemic hypoglycemia (HH), which presents itself in two forms: transient and permanent. Permanent HH is associated with genetic factors, including monogenic forms such as ABCC8 gene mutation. In HH, proper glycemic monitoring is crucial for revealing all hypoglycemic events; therefore, continuous glucose monitoring (CGM) may benefit these patients. We report a case of a newborn with persistent severe hypoglycemia that was unresponsive to intravenous glucose administration. Due to frequent severe hypoglycemic events, we implemented CGM, decreasing the number of invasive procedures for assessing glucose concentration. Genetic testing revealed the presence of a heterozygous splicing variant in ABCC8. The patient qualified for positron emission tomography, and a diffuse form of HH was diagnosed. Consequently, the patient qualified for a full pancreatectomy. Neonatal hypoglycemia presents diagnostic challenges, as proper differential diagnosis is crucial for successful treatment. In cases of persistent HH, genetic testing should always be offered to exclude conditions requiring prompt treatment and to achieve a good long-term outcome. As some hypoglycemic events might be asymptomatic, CGM might be a better option for patients with HH, as it allows for the analysis of all glycemic fluctuations and, therefore, reduces the need for invasive procedures.

Learning points: Persistent hypoglycemia in neonates requires differential diagnosis. In severe cases of HH not responding to diazoxide, positron emission tomography using 18F-fluoro-L-dihydroxyphenylalanine (18F-DOPA PET) is the test of choice to make diffuse/local HH differential diagnoses. Continuous glucose monitoring allows for quicker reaction during hypoglycemia and hyperglycemia, reducing possible complications that can affect the neonatal brain. Nowadays, there are many available resources that limit causing pain in neonates. There are reports of using CGM in neonates, but it is not registered.

Summary: Diabetic ketoacidosis (DKA), typically linked to type 1 diabetes or acute illness in type 2 diabetes, can rarely be triggered by pancreatic adenocarcinoma (PA). Though 80% of PA patients have glucose intolerance, DKA is exceptionally uncommon, with fewer than 20 documented cases. A 52-year-old woman with new-onset type 2 diabetes presented with altered mental status, abdominal pain, and 23 kg weight loss over 2 months. Labs confirmed DKA (glucose: 439 mg/dL, pH 7.1, ketonuria). Elevated tumor markers (CA19-9: >10,000 U/mL, CEA: 365 ng/mL) and imaging revealed a 4 cm pancreatic mass with metastases, biopsy-proven as PA. This case underscores PA as a rare but critical DKA precipitant in new-onset diabetes. Unexplained hyperglycemia, rapid weight loss, and markedly elevated tumor markers should prompt malignancy screening. Early multidisciplinary intervention may improve outcomes in this aggressive cancer. Clinicians must maintain high suspicion for occult PA in atypical DKA presentations.

Learning points: Unexplained weight loss alongside newly-identified type 2 DM warrants thorough evaluation for occult malignancy. Elevated CA19-9 and CEA in the context of new-onset diabetes should raise suspicion for pancreatic malignancy. DKA may rarely serve as the initial manifestation of pancreatic cancer in newly-identified type 2 DM cases, necessitating a high index of clinical suspicion.

Summary: Lower extremity amputation secondary to diabetic foot ulcers (DFU) is associated with a 50% mortality rate within 5 years. The aim of this case series is to understand the risk factors and management of DFU leading to above-knee or below-knee amputation at an urban medical center. We conducted a retrospective review of the medical history, foot examination findings, noninvasive vascular studies, angiographic imaging, and radiology results from hospital stays during which patients underwent amputation. A total of 35 patients with DFU who underwent amputation between 2016 and 2021 were evaluated. Of these, 16 ambulatory patients had complete medical data and were included in the analysis. Risk factors for amputation, clinical presentation, diagnostic findings (e.g. vascular studies or imaging), and amputation approaches were analyzed. Our study found significant variability in the medical history, presentation, and management of patients with DFU who underwent lower extremity amputations, including differences in vascular abnormalities and the timing of care. Poor glucose control (median HbA1c of 10.3%) and delayed presentation likely contributed to tissue loss and amputation. Understanding the individual medical presentations and management of patients undergoing leg amputation secondary to DFU may inform the development of more effective strategies to prevent this complication in patients with diabetes.

Learning points: There is significant variability in the presentation and progression of diabetic foot ulcers (DFUs). Diagnostic evaluation of DFU varies between patients; a more standardized evaluation to inform best practices could be useful. Socioeconomic status (SES) plays a role in the increased risk of amputations among DFU patients, including delay in care and access to limb salvage programs. Multidisciplinary care, including early detection of DFU, patient education, and routine screenings, is essential for improving outcomes and reducing the risk of amputations in high-risk DFU patients.

Summary: Depot medroxyprogesterone acetate (DMPA) is a highly effective injectable contraceptive, but is associated with reduced bone mineral density (BMD) and increased fracture risk in some studies because it inhibits the hypothalamic-pituitary-ovarian axis. Herein, we present the diagnostic challenging case of a premenopausal woman with an unusual hip fracture and prolonged use of intramuscular DMPA injection. Whole-exome sequencing revealed a rare heterozygous variant of the ALPL gene, which could cause adult-onset hypophosphatasia (HPP). However, it was classified as a variant of unknown significance. Our case highlights the fracture risk from long-term use of DMPA, which is widely used as progestogen-only contraceptive method in low- and middle-income countries. Clinicians should inform women on the potential adverse effect of prolonged use of DMPA for contraception on bone health and advise them to adopt healthy lifestyle habits, with adequate calcium and vitamin D intake.

Learning points: Evidence shows that intramuscular depot medroxyprogesterone acetate (DMPA) negatively affects BMD by inhibiting the hypothalamic-pituitary-ovarian axis. However, the risk of bone fragility fracture from DMPA remains uncertain because of paucity of data on fracture incidence. Herein, we present a case of a premenopausal woman with an unusual hip fracture and a history of prolonged use of intramuscular DMPA contraception. Our case also highlights that the patient's clinical presentation is essential for interpreting genetic sequencing results.

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.