Endocrinology

An 18-year-old girl who presented for primary amenorrhea treatment was found to have a 46, XY karyotype. CAIS was diagnosed and treated. Her twin brother had a 46, XY karyotype with male physical and ultrasound features.

NICTH was diagnosed in a man with pelvic sarcoma. Severe hypoglycemia did not respond to standard treatments but had a partial response to rhGH and angioembolization of the tumor.

A unique finding of pheochromocytoma in a young adult with heterotaxy syndrome and a functioning ectopic spleen. The patient remained stable on alpha-blockers having decided not to undergo surgery.

A young man was referred for late-onset skeletal issues. His height had increased by 5 cm in the past 6 years, and he was experiencing leg cramps and bone pain. What was the diagnosis and treatment?

Complete heterozygous deletion of HNF1B was incidentally discovered in a woman who was enrolled in a clinical trial for type 1 diabetes and received immunosuppressive treatment for 4 years when she was a child.

Flow cytometry in two cases of growth hormone-secreting pituitary neuroendocrine tumors, one aggressive and one non-aggressive, revealed significant differences in the tumor immune macro- and microenvironment.

AIP can easily be overlooked in its early stages. When a patient presents with central, peripheral, or autonomic nervous system symptoms and common causes are ruled out, AIP should be considered.

Semaglutide therapy achieved weight loss and reduced cocaine craving in a man with obesity and chronic cocaine abuse. Could this be a new strategy to address substance craving in patients with comorbid obesity?

Adding empagliflozin to sulfonylurea improved glycemic control in a woman with maturity-onset diabetes of the young. No adverse effects were noted, including no increase in ketonemia or ketonuria.

Thyroid storm had a fatal outcome in a woman with Graves disease who had not used her medications during pregnancy or since giving birth, highlighting the importance of medication adherence during the postpartum period.

ICI-related diabetes developed after 18 months of nivolumab treatment for malignant melanoma. Diffusion-weighted imaging may provide valuable insights into pancreatic involvement at an early stage of the disease.

Testing ketone levels and a brain MRI are essential for unconscious patients on SGLT2 inhibitors. Patients on these drugs are at increased risk of euglycemic diabetic ketoacidosis, which may cause metabolic encephalopathy.

A young woman diagnosed with minimal change nephrotic syndrome in childhood developed latent autoimmune diabetes in adults and Graves disease. HLA testing was performed to investigate her genetic background.

Symptoms of hyperthyroidism secondary to Graves disease developed nearly 6 months after MWA of a thyroid nodule in a man with elevated preoperative levels of thyroid peroxidase antibody.

A patient with systemic lupus erythematosus was initially diagnosed with Evans syndrome, an autoimmune hematologic disorder. The case was further complicated by the co-existence of Hashimoto’s thyroiditis and pernicious anemia.

CCE led to multiorgan failure and death after intravenous alteplase to treat acute ischemic stroke. This case highlights the urgent need for greater awareness of this serious complication.

Reninoma should be considered in young people with hypokalemic hypertension when common causes have been excluded. Excision can cure hypertension and prevent morbidity and mortality.

Exophthalmos and an acute decline in visual acuity developed several years after treatment for papillary thyroid carcinoma. An isolated mass in the orbital cavity was excised and vision improved with no need for adjuvant therapy.

Two rare cases that expand the list of pathogenic GNB1 variants. GNB1 may have value as a candidate gene for severe early-onset obesity, hyperphagia, and neurodevelopmental delay or other metabolic and endocrine disorders.

A solitary fibrous tumor of the thyroid was unexpectedly found during the workup of bilateral papillary thyroid carcinoma in a woman with no prior medical history who presented with a year-long indwelling cervical swelling.