Primary adrenal insufficiency masking as an adrenal B-cell lymphoma.

We report here a woman in her 70s presenting with adrenal insufficiency secondary to a primary adrenal lymphoma. The patient had a previous history of aphthous ulcers on dexamethasone and was referred to endocrinology with symptoms of fatigue and orthostasis. Subsequent Cosyntropin stimulation showed primary adrenal insufficiency and adrenal CT demonstrated large infiltrative masses. Adrenal biopsy confirmed the diagnosis of primary adrenal lymphoma of the B-cell type. This case demonstrates the importance of including lymphoma in the differential diagnosis of adrenal insufficiency, particularly in the elderly population and in the setting of negative 21-hydroxlyase antibody results.

Case of an atypical pituitary abscess.

A pituitary abscess is a rare intrasellar infection. Correct identification can be challenging preoperatively given its non-specific symptoms and imaging findings. We report a case of a young woman presenting with secondary amenorrhea, visual field deficits and a 2.6 cm pituitary lesion diagnosed to be a craniopharyngioma. A concomitant unexpected pituitary abscess was diagnosed intraoperatively without associated meningeal symptoms.

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.

Classic galactosaemia is the most severe type, inherited in an autosomal recessive fashion and normally detected on newborn screening. It is caused by an inability to digest galactose due to a deficiency of galactose-1-phosphate uridyltransferase (GALT), resulting in an intolerance of feeds in the neonatal period, failure to thrive, hypoglycaemia, jaundice, cataracts, hepatomegaly, vomiting, diarrhoea, developmental delay and an increased risk of Escherichia coli sepsis. The long-term sequelae of this disorder include cognitive impairment, neurological symptoms, such as ataxia, nutritional deficiencies, such as calcium and vitamin D, and gonadal dysfunction. We report here a case of a 34-year-old woman with classic galactosaemia diagnosed in adulthood, developing primary ovarian insufficiency and osteoporosis as well as primary adrenal insufficiency and chronic myeloid leukaemia, which are two associations not seen in current literature. Further studies are needed to determine if an association exists between these diseases.

Calcinosis cutis in a renal transplant patient.

Calcinosis cutis is an unusual disorder characterised by calcium-phosphate deposition into cutaneous and subcutaneous tissues. There are five subtypes: dystrophic, metastatic, idiopathic, iatrogenic and calciphylaxis. Our objective was to report a patient with a history of haemodialysis-dependent end-stage renal disease (ESRD) who developed metastatic calcinosis cutis, which is usually associated with abnormalities of calcium-phosphate metabolism in renal failure. In our patient, the serum calcium and phosphate levels were normal. Additionally, we describe the diagnostic approach and the difficulties involved in the management of calcinosis cutis in patients with haemodialysis-dependent ESRD.

Rapidly progressive cognitive decline associated with teprotumumab in thyroid eye disease.

Teprotumumab (Tepezza), an insulin-like growth factor type 1 receptor antagonist, was approved for treatment of thyroid eye disease in 2020. Teprotumumab is administered intravenously every 3 weeks for a total of eight doses. Common side effects include nausea, diarrhoea, muscle spasms, hearing impairment, dysgeusia, headaches, dry skin, infusion reactions and hyperglycaemia. We report here a 76-year-old man with Graves-related thyroid eye disease who developed a rapidly progressive cognitive decline after receiving four out of eight doses of teprotumumab (cumulative dose 4620 mg). He was admitted for workup and teprotumumab infusions were discontinued. Intravenous glucocorticoids and immunoglobulin were given which showed no improvement in clinical symptoms. He subsequently underwent plasmapheresis with resolution of his symptoms, suggesting a teprotumumab-induced encephalopathy. Further studies involving larger populations and longer durations are needed.

Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome.

Complete androgen insensitivity syndrome (CAIS)-resulting in 46,XY karyotype, but female phenotype-is a disorder of sex development and primary amenorrhea, but its effect on bone mineral density (BMD) is singular and difficult to manage. Androgens are an important modulator of bone remodeling and health, and the androgen receptor (AR) is pivotal for signaling within the bone cells. CAIS results in a severely disrupted AR throughout the body, causing an elevated risk of early osteoporosis. Timing of gonadectomy and hormone replacement therapy protocols are not established, creating a wide variety of treatment plans and BMD profiles. Our objective is to report a patient with CAIS status post prepubertal orchiectomy that developed early osteoporosis and to describe the lack of optimal strategies and consensus available to improve bone health in this population. Additionally, our case illustrates the fact there are no guidelines advocating the use of newer drugs for osteoporosis in this population.

False elevations in urinary metanephrines: under-recognised pitfall with 24-hour urinary volume collection.

One pitfall in 24-hour urine collection is the input of incorrect urinary volume by the reference laboratory. This may lead to an incorrect diagnosis of pheochromocytoma or paraganglioma. A 48-year-old African-American woman was seen in the clinic for an elevated 24-hour urine metanephrine screen during workup for secondary hypertension. Urine volume was found to be incorrectly inputted by the lab as 9750 mL rather than 975 mL. The urinary metanephrines were then recalculated and the 24-hour urinary metanephrines resulted within normal limits. This case highlights this unique and potentially under-recognised error in testing with 24-hour urine volume collection.

Surgery and radiation management for chondrosarcoma of the temporo-mandibular joint: A Vietnamese case report.

INTRODUCTION: Chondrosarcoma is a malignant tumor originated from cartilage cells. The most common sites of chondrosarcoma are pelvis, femur and ribs. The temporo-mandibular joint (TMJ) chondrosarcoma is extremely rare, with approximately 30 cases reported in worldwide. PRESENTATION OF CASE: In this report, we present a case of chondrosarcoma in the left TMJ, which was successfully treated with surgery and radiation therapy. A 47 year-old women was admitted to our hospital with a mass in left pre-auricular region. On examination and para-clinical test results, the initial diagnosis was parotid gland cancer. In operation, the lesion was a mass originating from the left TMJ. Tumor resection was performed with close margin. The post-operative pathological result was well-differentiated chondrosarcoma. She was indicated adjuvant radiation therapy due to inadequate surgical therapy. There was no evidence of recurrence after 6 months follow-up. CONCLUSION: The TMJ chondrosarcoma is needed to distinguish from other diseases especially parotid gland tumor. Surgery and adjuvant radiation therapy are standard care with the aim of preserving joint function.