JCEM case reports最新文献

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.

Thyroid nodules are one of the most commonly encountered conditions in clinical endocrinology. Most thyroid nodules are of epithelial origin. However, primary thyroid mesenchymal tumors (TMTs), arising from the mesenchymal tissue, are being increasingly recognized. More than 20 different forms of benign and malignant TMTs have been described in the literature. Thyroid schwannoma is an extremely rare type of TMT, with only a few cases reported to date, accounting for less than 1% of all schwannomas. It primarily affects adults, with no significant sex predilection, and is often discovered incidentally during evaluation for thyroid nodules. Due to its rarity, the clinical presentation and natural history remain poorly understood, underscoring the importance of histopathological examination for accurate diagnosis and management. We describe a case of a patient with thyroid schwannoma who was diagnosed and managed at our center, contributing valuable insights to the limited body of knowledge on this rare entity. This is followed by a detailed description of the clinical features, diagnosis, and management of thyroid schwannomas.

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.

Disorders of sex development are genetically complex, and phenotypes range from hypospadias to completely masculinized or feminized genitalia with a discordant karyotype. They arise as a result of alterations in gonad formation (sex determination stage) or function (sex differentiation stage). Reaching a specific diagnosis with the aid of molecular technologies is important for individualized management, genetic counseling, and prognostic prediction for fertility and risk of tumor development. This case report describes a young adult male who was referred initially with concern for Klinefelter syndrome based on a commercial genetic test. His laboratory investigations revealed hypergonadotropic hypogonadism, azoospermia, and a chromosomal karyotype of 46,XX. He was eventually diagnosed with 46,XX testicular disorder of sex development. He was initiated on testosterone replacement therapy and offered adoption and use of donor sperm for artificial reproduction techniques.

SARS-CoV-2 infection could trigger autoimmune disease. We report a case of concomitant exacerbation of Graves orbitopathy (GO) and myasthenia gravis (MG) after SARS-CoV-2 infection. A 43-year-old woman had diplopia, proptosis, and swollen eyelids. Blood tests showed thyrotoxicosis and positive thyroid-stimulating hormone receptor antibodies, and orbital magnetic resonance imaging (MRI) showed enlarged extraocular muscles. She was therefore referred to our hospital with diagnosis of GO. Methylprednisolone pulse therapy (MPT) in combination with orbital radiotherapy were performed for 3 weeks, and ocular symptoms improved. At 41 weeks, the patient was infected with SARS-CoV-2 and felt sudden worsening of diplopia and ptosis. MRI showed an enlarged right inferior rectus muscle. MPT and orbital radiotherapy were performed again for 3 weeks for the suspected GO, but there was insufficient improvement of the ptosis. Serum antiacetylcholine receptor and anti-muscle-specific tyrosine kinase antibodies were negative, but the patient was further evaluated with repetitive nerve stimulation test and ice pack test, and diagnosis was double-seronegative MG. Pyridostigmine treatment led to dramatic improvement of the ptosis. SARS-CoV-2 infection could exacerbate MG as well as GO. Careful diagnosis is required for ocular symptoms after SARS-CoV-2 infection, especially when there is double-seronegative MG.