JCEM case reports最新文献

Endogenous hyperinsulinemia hypoglycemia has numerous etiologies. The objective of this report is to describe a patient with severe hyperinsulinemic hypoglycemia with no known history of diabetes or hypoglycemia who presented with acute altered mental status. Blood glucose was noted to be 40 mg/dL (2.22 mmol/L) (reference range 65-125 mg/dL; 3.61-6.94 mmol/L). The patient's sulfonylurea screen was negative. Following 1 mg glucagon injection, the patient's glucose did not improve, a response inconsistent with insulinoma. Imaging studies of the pancreas did not show pancreatic mass. Two weeks before the presentation, the patient started on tramadol for back pain with the dose increased 3 days prior to presentation. The patient's hypoglycemia resolved and returned to baseline 4 days after the initial presentation. Tramadol has been reported to cause hypoglycemia, especially in the elderly population. Tramadol may act on μ receptors on β cells to upregulate insulin secretion. When approaching a patient with endogenous hyperinsulinemia, one should consider tramadol or other analgesics as a possible etiology.

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare but important cause of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). It usually presents as cyclical CS in young adults. Childhood onset of PPNAD is exceedingly rare. About 90% of cases of PPNAD are associated with Carney complex (CNC). Both PPNAD and CNC are linked to diverse pathogenic variants of the PRKAR1A gene, which encodes the regulatory subunit type 1 alpha of protein kinase A (PKA). Pathogenic variants of PRKACA gene, which encodes the catalytic subunit alpha of PKA, are extremely rare in PPNAD. We report a case of a female child, aged 8 years and 3 months, who presented with features suggestive of CS, including obesity, short stature, hypertension, moon facies, acne, and facial plethora but without classical striae or signs of CNC. Hormonal evaluation confirmed ACTH-independent CS. However, abdominal imaging revealed normal adrenal morphology. Genetic analysis identified a duplication of the PRKACA gene on chromosome 19p, which is linked to PPNAD. The patient underwent bilateral laparoscopic adrenalectomy, and histopathological study confirmed the PPNAD diagnosis. Postoperative follow-up showed resolution of cushingoid features and hypertension. To our knowledge, this is the first reported case of a female child with PRKACA duplication presenting as CS due to PPNAD.

Amiodarone is a class III antiarrhythmic medication known for its complex interplay with thyroid physiology. Its prolonged half-life can result in persistent effects on thyroid function even after discontinuation. Amiodarone-induced thyrotoxicosis (AIT) is a serious and challenging complication due to these lasting effects. We present the cases of 2 patients who developed AIT resistant to standard medical treatment. Both patients required plasmapheresis sessions to reduce circulating levels of tetraiodothyronine (T4) prior to undergoing total thyroidectomy. Plasmapheresis is an effective intervention that significantly decreases circulating thyroid hormone levels, thereby lowering surgical risks associated with severe cardiac complications linked to thyrotoxicosis.

Adrenal leiomyomas are rare, benign tumors originating in the adrenal glands. They have a varied age of presentation, occur with a slight female predominance, and are typically unilateral, although bilateral cases can occur. Symptoms typically include abdominal or flank pain. This report presents a rare case of an 11-year-old male with disseminated molluscum contagiosum, diagnosed with bilateral adrenal leiomyomas. Imaging revealed large, heterogeneous adrenal masses, and the patient underwent successful adrenalectomy. This case underscores the rarity of adrenal leiomyomas in the pediatric population and highlights the critical role of imaging and surgical intervention in their management.

Maternal thyroid dysfunction can negatively influence fetal and/or neonatal thyroid hormone homeostasis. Autoantibodies associated with autoimmune thyroid disease can cross the placenta. TSH receptor antibodies (TRAbs) can either stimulate or block the TSH receptor, and both types of antibodies can be present in the same person. TRAbs are the most important antibodies in Graves' disease but are also found in a percentage of women with Hashimoto disease. Properties of the dominant TRAb type (stimulating or blocking) will generally dictate the clinical picture. We describe a rare case of neonatal hypothyroidism followed by hyperthyroidism caused by maternal TRAbs, associated with Hashimoto disease. In contrast to similar cases, the mother was not treated with antithyroid drugs, providing evidence for the gradually changing balance between blocking and stimulating TRAbs after birth and their different effects on neonatal thyroid function. This case highlights the need for regular thyroid function tests in neonates with high TRAb titers until maternal antibodies are cleared.

Progressive osseous heteroplasia (POH) is a rare autosomal-dominant hereditary bone disorder caused by inactivating pathogenic variants in GNAS1. POH is characterized by progressive cutaneous ossification and heterotopic ossification in skeletal muscles and subdermal connective tissues. Understanding of the natural history and phenotypic heterogeneity of the illness is incomplete. We report 2 affected male subjects with a milder than usual clinical course, highlight their clinical presentations and molecular correlates, and propose sodium ¹⁸F-fluorine positron emission tomography (PET) scanning as a sensitive technique for POH diagnosis and management.

Cushing syndrome (CS) results from prolonged exposure to excess glucocorticoids, leading to a range of clinical manifestations including avascular necrosis (AVN), a rare complication of CS. Although AVN is often associated with exogenous glucocorticoid treatment, it can occur in endogenous CS but may be unrecognized because of its rarity and possibly from a subclinical presentation. We describe a case of a 71-year-old male with florid Cushing disease who initially presented with bilateral hip AVN and later developed bilateral shoulder AVN despite achieving biochemical remission following transsphenoidal surgery and adjuvant stereotactic photon radiosurgery. AVN in endogenous CS is underreported, and guidance on routine screening is lacking. Our case underscores the importance of considering AVN in patients with CS, especially in those with persistent or recurrent joint symptoms and markedly elevated cortisol levels. Early detection of AVN is crucial as it can lead to irreversible joint damage and disability if untreated. Screening strategies should be explored to identify high-risk patients who are diagnosed with CS for timely intervention, thereby preventing long-term morbidity associated with AVN.

A 2-year-old male with genetic-negative, diazoxide-responsive hyperinsulinism presented with a knot in his left, lateral thigh. His hypoglycemia was managed with diazoxide, chlorothiazide, and monitoring via a Dexcom G6 continuous glucose monitor (CGM). X-ray showed 3 metallic wire foreign bodies, consistent with retained Dexcom sensor wires. He was referred to surgery for foreign body removal. Intraoperative fluoroscopy revealed 4 pieces of wire. Two superficial pieces were removed, but 2 small pieces deep to the fascia remained because of significant risk of injury or bleeding if removal was attempted. We present this case to increase awareness in the literature regarding retention of CGM wires. Raised nodules at sites of CGM insertion without fluctuation or erythema and persistent pain should raise suspicion for retention of sensor wires.

Multiple endocrine neoplasia type 1 (MEN-1) is a syndrome characterized by development of tumors including parathyroid adenomas, duodenopancreatic neuroendocrine tumors, and pituitary adenomas. We describe 1 patient with a novel and another with a rare pathogenic MEN-1 variant. Case 1 was a 61-year-old woman with recurrent hypercalcemia who ultimately required a subtotal parathyroidectomy, with a thymectomy revealing a thymoma. She then developed a gastrinoma requiring pancreatectomy and also had a biochemically nonfunctioning sellar mass. Genetic testing found a novel MEN1:c.1192delC, p.(Gln398Argfs*47) pathogenic variant. Case 2 was a 38-year-old woman with a family history of MEN-1, who had recurrent hypercalcemia and nephrolithiasis requiring a subtotal parathyroidectomy. She had a macroprolactinoma, but no pancreatic lesions. Genetic testing found a rare MEN1:c.784-9G > A pathogenic variant. MEN-1 syndrome should be considered in patients presenting with 1 or more classical MEN-1-associated tumors based on clinical suspicion.

Hypercalcemia is frequently encountered in clinical practice; however, sarcoidosis-induced hypercalcemia is relatively uncommon and requires careful evaluation, particularly when initial investigations are inconclusive or the hypercalcemia is refractory to standard treatment. We present a complex case of a 60-year-old female with chronic stage IV diabetic nephropathy who presented with acute severe asymptomatic hypercalcemia resulting from splenic sarcoidosis confirmed on splenic biopsy. Despite commencement of prednisone therapy, her hypercalcemia persisted. IV fluid therapy was complicated by fluid overload from chronic renal disease. Ketoconazole was trialed as second-line therapy with no initial improvement. Our case illustrates the diagnostic and therapeutic challenges associated with asymptomatic hypercalcemia attributed to systemic sarcoidosis on a background of chronic renal impairment. It underscores the importance of considering systemic sarcoidosis as a potential etiology in cases of acute PTH-independent hypercalcemia resistant to initial therapy.