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Endocrinology

Case Studies

Hypertension and hypokalemia with severe hydronephrosis

A case of suspected primary aldosteronism that was complicated to diagnose because severe hydronephrosis meant the patient's aldosterone-to-renin ratio values were normal.

Refsum disease revealed by dilated cardiomyopathy

Symptoms of Refsum disease, such as retinitis pigmentosa, usually present in late childhood and adolescence, but cardiac manifestations are frequent in the late course of the disease.

Exceptionally rare manifestation of papillary thyroid cancer

Spontaneous hepatic hemorrhage is a rare condition that is mostly seen in patients with hepatocellular carcinoma or hepatic adenomas. But in this case it was caused by metastasized papillary thyroid cancer.

A hidden pathology of a vertebral fracture

A 19-year-old girl with a recent history of chronic back pain and pain in the small joints of both hands was admitted with a vertebral fracture. What endocrine disorder was responsible?

Unusual cause of growth arrest, primary amenorrhea, and metabolic syndrome

IGF-1 deficiency was detected in a 16-year-old girl with primary amenorrhea, height and weight at the 3rd percentile, and a waist circumference at the 90th percentile, but what was the underlying cause?

Maternally inherited diabetes and deafness

Genetic testing was needed to diagnose the mitochondrial disorder MIDD in a woman with diabetes, weight loss, and poor glycemic control. Glycated hemoglobin and pancreatic function improved after treatment with a DPP-4 inhibitor.

Stevens-Johnson syndrome/toxic epidermal necrolysis complicated with fulminant type 1 diabetes

A rare case of fulminant type 1 diabetes induced by SJS/TEN, which had developed in a patient taking carbamazepine and phenytoin. Glucose monitoring should be considered for patients with SJS/TEN.

Ablation of thyroid cancer: a double-edged sword?

Thyroid ablation technology has developed rapidly in the past 20 years, but these two cases highlight how incomplete ablation of thyroid nodules hinders its use as a treatment for thyroid cancer.

Arginine vasopressin deficiency after COVID-19 vaccination

A case of AVP-D presumed to be triggered by vaccination against SARS-CoV-2. Persistent pituitary stalk enlargement and positive anti-rabphilin-3A antibodies helped diagnosis and avoided the need for pituitary biopsy.

Accidental use of dulaglutide into the third trimester

The GLP-1 receptor agonist dulaglutide was unintentionally used by a woman with type 2 diabetes until the third trimester of an unplanned and unrecognized pregnancy, but what was the outcome?

Vitamin D-dependent rickets complicated with RSV infection

Vitamin D-dependent rickets type 1 A causes failure to thrive, hypotonia, and increased fracture risk, and may complicate the clinical course of lower respiratory tract infections. How would you address the therapeutic challenges in this toddler?

An unusual course of diabetes

A woman with a history of neonatal hyperglycemia and a relatively uneventful childhood without treatment, experienced significant hyperglycemia and retinopathy in adulthood, but what was the cause of her diabetes?

An unusual case of Sheehan syndrome

Sheehan syndrome is usually characterized by anterior pituitary hypofunction, but in this case rapid-onset panhypopituitarism and arginine vasopressin deficiency developed after postpartum hemorrhage.

Thyroid tuberculosis mimicking multinodular goiter

A woman presented with anterior neck swelling of 6 years’ duration that had recently increased in size. The absence of other significant clinical and laboratory findings delayed the diagnosis of thyroid tuberculosis.

Severe cobalamin C deficiency

Nephrotic syndrome is usually caused by primary renal disorders, but you should consider metabolic diseases in atypical cases. This 7-month-old presented with nephrotic syndrome, malignant hypertension, and hemolytic anemia.

Adrenal insufficiency caused by immunotherapy

Three patients receiving tislelizumab immunotherapy for NSCLC developed adrenal insufficiency, highlighting the need for awareness of pituitary–adrenal axis dysfunction as an immune-related adverse event.

Necrotizing myopathy in a woman with type 1 diabetes

Identifying the cause of muscle necrosis can be a diagnostic challenge, as shown by this case of diabetic myonecrosis complicated by pyomyositis and abscess caused by Escherichia coli.

Novel variants linked to type 3 familial partial lipodystrophy

This case study describes the clinical and molecular characterization of three individuals with FPLD3 and the identification of two novel PPARG pathogenic variants.

Hypertriglyceridemia-induced recurrent acute pancreatitis

A homozygous APOA5 mutation was found in a man with recurrent acute pancreatitis and hypertriglyceridemia. Treatment to normalize triglyceride levels prevented acute pancreatitis relapses.

Abnormal glycated hemoglobin level in a patient with diabetes

HbA1c levels that don’t match the clinical picture need further investigation. Other factors, such as Hb variants, can interfere with the HbA1c measurement and make glycemic control difficult to achieve.