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.

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.

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.

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.

Multinodular goiter as the initial presentation of systemic sarcoidosis: limitation of fine-needle biopsy.

Sarcoidosis is a chronic systemic disease characterized by noncaseating granulomas. Thyroid involvement is rare, with a prevalence of 1-4% in large series of autopsied patients with systemic sarcoid. We report a case of a 65-year-old woman with a nontoxic multinodular goiter, dyspnea in the supine position, and rightward tracheal deviation as the initial presentation of systemic sarcoidosis. Fine-needle biopsy of the thyroid mass was consistent with benign adenomatoid goiter. A total thyroidectomy was performed because of compression symptoms. Histopathology revealed numerous diffuse noncaseating granulomata typical of thyroid sarcoidosis. Subsequent chest computed tomography showed extensive bulky mediastinal and hilar adenopathy and multiple small pulmonary nodules consistent with sarcoidosis. Transbronchial fine-needle biopsy also revealed noncaseating granulomas. The patient's supine dyspnea resolved quickly after total thyroidectomy. This case report illustrates that in patients with known sarcoidosis, careful thyroid examination is essential and supine dyspnea may be directly related to tracheal compression by a multinodular goiter rather than pulmonary sarcoidosis.