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135 articles
October 202620
Delayed diagnosis of MEN1 after kidney transplantation: unrecognized pre-transplant features and implications for clinical practice.
A 68-year-old man with end-stage renal disease underwent living-donor kidney transplantation and had persistent hypercalcemia afterward.
When Insulin Must Wait: The Role of Renal Replacement Therapy in Refractory Hypokalemia During Severe Diabetic Ketoacidosis.
A 37-year-old man presented with abdominal pain, progressive dyspnea, drowsiness, and Kussmaul respirations. Testing showed severe diabetic ketoacidosis (DKA), acute kidney injury, and severe hypokalemia.
Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic…
Approach to the patient with APS-1/APECED.
This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.
Behind the Sella: A Rare Case of Pituicytoma Mimicking a Pituitary Adenoma.
A 48-year-old man presented with symptoms of hypogonadism, headaches, and visual field defects. Testing showed hypogonadotropic hypogonadism and hyperprolactinemia, while MRI revealed a sellar-suprasellar mass initially…
Severe growth retardation in Dent disease: a case report of a novel OCRL variant.
A 12-year-old boy with marked short stature and poor weight gain had low-molecular-weight proteinuria, haematuria, hypercalciuria and bilateral nephrocalcinosis, with normal renal function and no relevant family…
Acromegaly as the Initial Presentation of Multiple Endocrine Neoplasia Type 1: A Case Report.
A 34-year-old woman presented with acromegalic features and hypercalcemia. Testing and MRI showed a recurrent growth hormone–secreting pituitary macroadenoma, while neck imaging identified a parathyroid adenoma.
Emerging risks of health optimisation: refractory nausea associated with peptide injections reported to contain retatrutide.
A woman in her mid-20s presented with five days of persistent nausea, repeated vomiting, loose stools and markedly reduced oral intake.
Facial nerve palsy and hypertension; unusual presentation of apparent mineralocorticoid excess (AME) syndrome in a paediatric patient.
A boy in early childhood presented after two days of right-sided facial palsy and was found to have severe hypertension with end-organ damage.
Severe Euglycemic Diabetic Ketoacidosis After Semaglutide-Associated Poor Intake Despite Empagliflozin Discontinuation: A Case Report.
A 68-year-old woman with long-standing type 2 diabetes developed several weeks of nausea, intermittent vomiting and diarrhea, and minimal oral intake after starting semaglutide.
Refractory amiodarone-induced thyrotoxicosis causing malignant arrhythmias, treated with therapeutic plasma exchange-bridged thyroidectomy.
A man in his mid-60s with severe cardiomyopathy developed refractory amiodarone-induced thyrotoxicosis, leading to recurrent ventricular tachycardia.
Myxoedema coma in a patient with alcohol dependence: a diagnostic pitfall.
A man in his sixties with known hypothyroidism and alcohol dependence presented with profound hypothermia, refractory hypoglycaemia, hypoxia, and reduced consciousness.
Iatrogenic Cushing's syndrome from an adulterated glucocorticoid-containing supplement.
A man in his 40s presented with rapid weight gain, fatigue, and signs of Cushing's syndrome, including abdominal striae and centripetal obesity.
Off-label palopegteriparatide for severe pediatric postsurgical hypocalcemia.
A 14-year-old boy with Graves’ disease developed profound hypocalcemia after total thyroidectomy, with serum calcium 5.9 mg/dL, ionized calcium 0.83 mmol/L, and undetectable parathyroid hormone.
Androgen insensitivity syndrome: A case report.
A 29-year-old phenotypic female presented with primary amenorrhea and intermittent abdominal pain. Examination revealed normal breast development, sparse pubic hair, and female external genitalia.
Thyrotoxicosis-Associated Cholestatic Jaundice in a Patient With Incidental Gallstone Disease: A Case Report and Literature Review.
A 62-year-old woman presented with right upper quadrant pain, weight loss, and jaundice. Laboratory tests indicated cholestatic liver injury, and imaging revealed a solitary gallstone and signs of right-sided heart…
Diabetic Neuropathies.
This article provides an update on the biological mechanisms and risk factors for the varied manifestations of diabetes-associated nerve injury, and reviews current diagnostic and treatment approaches.
Insights into diagnosis and management of giant adrenal pseudocysts.
A young man presented with headaches and mild anaemia, leading to imaging that revealed a giant left adrenal cystic lesion measuring 19×15×15 cm. Despite indeterminate CT findings, PET imaging suggested a benign nature.
Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.
A 36-year-old woman presented with a 20-mm thyroid nodule classified as EU-TIRADS 4 and Bethesda III, with normal serum calcitonin levels.
Exceptional and Durable Response to Selpercatinib in a Patient with Apparently RET -Negative, HRAS -, and NF1 -Mutated Metastatic Medullary Thyroid Carcinoma.
A 50-year-old woman presented with rapidly progressive medullary thyroid carcinoma (Ki-67 30%) and extensive liver and bone metastases.
September 20264
Acute variceal bleeding in a patient with phaeochromocytoma: the critical choice of vasoactive therapy.
A woman in her late 70s with a known left-sided phaeochromocytoma experienced acute variceal bleeding, likely due to cirrhosis. Due to the risk of hypertensive crisis, terlipressin was not used.
Lipomatous pseudohypertrophy of pancreas with chronic calcific pancreatitis presenting with nutritional dermatosis and type 3c diabetes.
A woman in her early 50s presented with erythema, scaling of the limbs, weight loss, anasarca, and chronic foul-smelling diarrhea, indicative of nutritional dermatosis due to malabsorption.
Primary adrenal lymphoma presenting as primary adrenal insufficiency.
A man in his late 60s presented with symptoms of adrenal failure, including anaemia and hypercalcaemia. Initial tests indicated adrenal insufficiency, and imaging showed bilateral adrenal enlargement.
Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene.
A woman in her 40s, initially diagnosed with type 1 diabetes, presented with a 30-year history of fluctuating insulin sensitivity and later developed insulin resistance, despite being non-obese.
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