JCEM case reports最新文献

Excess fibroblast growth factor-23 (FGF23) causes renal phosphorous wasting and impaired activation of vitamin D leading to osteomalacia. Tumor-induced osteomalacia (TIO) is a rare cause of FGF23-mediated hypophosphatemia. We present 2 patients with FGF23-mediated hypophosphatemia who had low bone mineral density (BMD) at diagnosis and remarkable improvements in BMD with treatment. Patient 1 is a 43-year-old man who had years of progressive pain, difficulty ambulating, and multiple fractures. Patient 2 is a 48-year-old nonverbal man with autism and intellectual disability who had months of progressively declining mobility, presumed pain, and multiple fractures. Workup in both cases revealed hypophosphatemia, evidence of renal phosphorous wasting, and elevated FGF23. Patient 1 was diagnosed with TIO when imaging identified a subcutaneous left flank mass and excision resulted in rapid symptom improvement; he experienced a 96% increase in lumbar spine (LS) BMD after surgery. Patient 2 has had multiple scans over several years, but no FGF23-secreting tumor has been identified. He has been maintained on medical treatment with phosphorous and calcitriol with improvement in functioning and 48% increase in LS BMD. Both patients had improvements in BMD with treatment, with more pronounced improvement in the patient with TIO managed surgically.

We report growth hormone (GH) deficiency due to presumed GH releasing hormone (GHRH) resistance in an adolescent with pseudohypoparathyroidism type 1B (PHP1B) due to paternal uniparental disomy of chromosome 20 (patUPD20). A male patient aged 11 years 10 months with obesity and mild developmental delay was found to have hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone level. History included muscle cramps and leg pain with activity. Examination showed round facies, short stature, and obesity. He was in puberty and bone age was advanced by > 2 years. Detailed genetic workup, including nucleotide sequence analysis of GNAS exons 1-13 and STX16, methylation-sensitive multiplex ligation-dependent probe amplification and analysis of several microsatellite markers for chromosome 20, established the diagnosis of PHP1B due to patUPD20. Muscle cramps and hypocalcemia resolved with calcium carbonate, ergocalciferol, and calcitriol treatment. He was short with linear growth deceleration at around age 13 years. Peak GH concentration was insufficient following stimulation testing. Growth velocity improved with human GH treatment. Although rare, resistance to GHRH can occur in PHP1B and patients with this disorder should be evaluated for GH insufficiency if they present with short stature and reduced growth velocity. Treatment with recombinant human GH may improve growth velocity in such patients.

Cardiac tamponade is a rare complication of hypothyroidism. In rarer cases, hypothyroidism may initially present with tamponade. Cardiac tamponade is an emergency condition that usually requires urgent intervention. However, guidelines for tamponade secondary to hypothyroidism are not optimal, and cases have been managed variably (ranging from levothyroxine alone to pericardiocentesis followed by thyroid hormone replacement) with diverse outcomes. Here, we report a case of a 42-year-old male with no medical history who presented with exertional dyspnea, lower leg swelling, facial puffiness, constipation, and weight gain. He had low blood pressure (80/60 mm Hg), normal heart rate with sinus rhythm, normal oxygen saturation, and was afebrile. Apart from a mildly raised creatinine, his test results were normal. An echocardiogram revealed features of tamponade. Further laboratory tests showed severe hypothyroidism. Following the initiation of levothyroxine, he demonstrated significant improvement. Coronary angiography revealed 95% stenosis in the mid-left anterior descending artery, treated with stenting. Serial echocardiograms showed regression of the pericardial effusion, stabilizing his condition without the need for invasive pericardiocentesis. This case highlights the importance of prompt diagnosis and management of hypothyroidism-related tamponade to prevent severe cardiac compromise. Hence, it may be necessary to consider hypothyroidism in the differential for patients with unexplained cardiac tamponade.

Adrenal incidentalomas are a frequent cause for consultation in endocrinology. Current guidelines provide an algorithm for their evaluation to determinate the risk of hormonally active or malignant condition. We report a unique case of benign adrenal incidentaloma in a 53-year-old woman with multiple malignancy criteria on contrast-free computed tomography and [¹⁸F]fluorodeoxyglucose positron emission tomography-computed tomography, leading to a left adrenalectomy. Histopathologic analysis showed a 15-mm intra-adrenal lymphoid organ localized in the medulla, without any cellular atypia and organized with a capsule and multiple germinal centers. The surrounding adrenal tissue was unremarkable, and the patient did not develop any inflammatory, infectious, or neoplastic disease during the 2 following years. This is the first described case of a well-organized intra-adrenal ectopic lymphoid organ in the absence of any evident stimulus.

Starvation ketoacidosis in pregnant patients is a rare but life-threatening condition that requires prompt diagnosis and timely treatment. A 35-year-old pregnant woman at 33 weeks' gestation was admitted for abdominal pain with poor oral intake. She was diagnosed with perforated appendicitis and underwent emergent laparotomy. During the procedure and afterwards, she was found to have an anion gap metabolic acidosis. She was treated with a dextrose infusion with a fixed-rate insulin with correction of metabolic parameters. Women in late pregnancy are at increased risk for ketosis from increased relative insulin resistance and enhanced lipolysis. There is no consensus on optimal management of starvation ketoacidosis of pregnancy; however, carbohydrate administration is a cornerstone of treatment. We chose simultaneous administration of carbohydrates with insulin to overcome any inherent insulin resistance and to suppress lipolysis with rapid resolution of the patient's metabolic derangements.

Evaluation of an incidentally discovered indeterminate thyroid nodule (TN) in a previously healthy 59-year female led to diagnosis of thyroid paraganglioma (TPGL) and subsequently hereditary succinate dehydrogenase complex subunit D (SDHD)-related multifocal head and neck paragangliomas (PGLs). An ultrasound-guided fine needle aspiration (FNA) biopsy of the 1.7-cm TN was nondiagnostic and core biopsy was suspicious for papillary thyroid carcinoma. Pathology slides reviewed at tertiary center showed neuroendocrine neoplasm consistent with PGL. Her 24-hour urinary catecholamines and metanephrines were normal. Given the diagnosis of TPGL, genetic testing was recommended, which identified a pathogenic variant in SDHD (c.242C > T(p.P81L). Gallium-68-DOTATATE PET/CT revealed multifocal areas of increased somatostatin receptor expression from the skull base to thoracic inlet. Magnetic resonance imaging of the brain/neck showed multiple PGLs (right jugular, carotid, thyroid, left vagal, left level II, and superior mediastinal), all measured up to 1.7 cm. The right jugular PGL was treated with external beam radiation therapy of 3000 cGy. All PGLs remained stable and asymptomatic at 22-month follow-up imaging. TPGL should be considered in the differential diagnosis of a hypervascular TN in patients with SDHx-related pheochromocytoma-PGL syndromes and when such lesions with indeterminate cytology are encountered in patients with no known history of SDHx-mutation or syndrome.

We present a case of a PTH-related peptide (PTH-rp) producing uterine myoma, leading to hypercalcemia in pregnancy. Our patient presented with dehydration, hypotension, delirium, and malnutrition. Due to a serum calcium level of 17.9 mg/dL (4.48 mmol/L) (reference range 8.8-11.2 mg/dL; 2.20-2.80 mmol/L), prompt treatment with hydration and calcitonin was initiated. The patient went into labor before we could consider other treatment options. Although uncommon in pregnancy, it is of great importance to identify hypercalcemia since it is related to a high risk of maternal and neonatal morbidity and mortality. Because bisphosphonates are contraindicated in pregnancy, hydration and calcitonin are the cornerstones of treatment for PTH-rp-induced hypercalcemia.

Commercially available performance-enhancing supplements can contain banned performance-enhancing drugs (PEDs) and undisclosed steroid hormones that can induce hormonal abnormalities with associated clinical signs. We present a case of a 40-year-old male who developed bilateral gynecomastia and biochemical hypogonadotropic hypogonadism with a corresponding 6-month history of consuming commercially available performance-enhancing supplements for gym workouts. These performance-enhancing supplements were found to contain amounts of RAD-140, a selective androgen receptor modulator, MK-677, a GH secretagogue and cardarine, all of which are banned PEDs. In vitro analysis also detected undisclosed hormones testosterone, estradiol, and GH in all 3 supplements, with further steroid analysis using liquid chromatography mass spectrometry identifying an unidentified compound coeluting close to the testosterone peak. Cessation of these supplements led to full resolution of symptoms including normalization of hypogonadotropic hypogonadism. This case highlights the need for clinicians to consider commercially available performance-enhancing supplements as potential sources of PEDs and exogenous steroid hormones that can have adverse clinical consequences.

Hereditary hemorrhagic telangiectasia (HHT) causes arteriovenous malformations (AVMs) in several organs. This report is the first to document and image a thyroid AVM complication in HHT. A 72-year-old woman with HHT was referred for thyroid nodule evaluation. Ultrasonography showed a hypervascularized nodule in the right thyroid lobe which was initially suspected to be malignant. However, 3-dimensional computed tomography angiography demonstrated a thyroid AVM with abnormal anastomosis of the superior thyroid artery and the inferior thyroid vein. In the formation of thyroid AVM, here, chronic thyroiditis and hypothyroidism complications may have been a second hit, due to the predisposing first-hit germline mutation. This report sheds light on overlooked thyroid lesions in HHT and advocates a noninvasive imaging approach in diagnosing thyroid AVMs. Furthermore, this case suggests a potential mechanism of AVM formation in human HHT, possibly supporting the second-hit hypothesis.

Thyroid schwannoma, a rare neoplasm of the thyroid gland, originates from Schwann cells that form the myelin sheath. A 47-year-old woman presented with a progressively enlarging thyroid nodule, which was monitored by repeated ultrasonography over the previous 2 years. Following a diagnosis of thyroid schwannoma by core needle biopsy and immunohistochemical staining, the patient underwent ultrasound-guided microwave ablation (MWA). Subsequent thyroid ultrasounds indicated a gradual decrease in the tumor's volume, achieving a 12-month volume reduction ratio of 79.20%. No complications were observed. Ultrasound-guided MWA may serve as an effective alternative to conventional surgery for managing thyroid schwannomas.