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Endocrinology

Case Studies

Insulinoma misidentified as schizophrenia

Free for a limited time Insulinoma Case Study

Intermittently scanning CGM detected hypoglycemia in a woman previously diagnosed with schizophrenia and treated with antipsychotic medication. Insulinoma was diagnosed and resected, resolving her neuropsychiatric symptoms.

Thyroid dysfunction due to trace element deficiency

Free for a limited time Thyroid Disease Case Study

Selenium and zinc deficiency led to thyroid dysfunction in a patient who received total parenteral nutrition without trace element supplementation for one and a half months after intestinal resection.

Treatment of thyroid hormone resistance with TRIAC

Thyrotoxicosis Case Study

Thyrotoxicosis in a patient with a THRβ mutation was kept under control for 5 years by treatment with 3,5,3-triiodothyroacetic acid. Loss of efficacy occurred after autoimmune hyperthyroidism developed.

Management of long-lasting active Graves’ orbitopathy

Open Access Hyperthyroidism Case Study

Late orbital radiotherapy combined with intravenous methylprednisolone successfully treated a patient with recurrent and long-lasting unilateral reactivating Graves’ orbitopathy.

ICI-induced insulin-dependent diabetes without islet autoantibodies

Diabetes Case Study

Rapidly progressive insulin-dependent diabetes in the absence of islet autoantibodies developed 2 years after starting treatment with the immune checkpoint inhibitor nivolumab.

Profound hypotension induced by ICI treatment

A case of extreme hypotension that could have been prevented or mitigated with awareness of the underlying hypothyroidism related to nivolumab treatment.

Nonketotic hyperglycemia hemichorea-hemiballismus

Open Access Type 2 Diabetes Case Study

HC-HB is a rare movement disorder that can occur in patients with poorly controlled diabetes and hyperglycemia without ketoacidosis. The mainstay of treatment is prompt correction of hyperglycemia.

An unusual pancreatic neuroendocrine microtumor

Open Access Neuroendocrine Tumor Case Study

A pancreatic neuroendocrine microtumor with a high proliferation rate but metabolic, genetic, and epigenetic features correlated with a less aggressive disease course highlights the need to better understand PanNET tumorigenesis.

Type 1 diabetes after COVID-19 vaccination

This case report considers two cases of type 1 diabetes diagnosed after multiple COVID-19 vaccinations. HLA haplotypes associated with susceptibility to type 1 diabetes were present in both cases.

Primary thyroid lymphoma: a case series

Open Access Thyroid Cancer Case Study

Although rare, primary thyroid lymphoma should be considered in cases of rapidly growing goiters. Timely needle biopsy can avoid unnecessary surgery.

Bruns–Garland syndrome as the initial manifestation of type 2 diabetes

Open Access Type 2 Diabetes Case Study

Diabetic radiculoplexus neuropathy, or Bruns–Garland syndrome, is a rare form of microvascular complication that more commonly affects the lumbosacral plexus and, very rarely, the cervical plexus.

DVT: an unusual sign of pediatric scurvy

Open Access Metabolic Disease in Childhood Case Study

Signs of scurvy are non-specific and wide ranging, so vitamin C deficiency is often misdiagnosed. This is the first case of DVT caused by large pelvic subperiosteal hematomas in an autistic boy with severe dietary restriction.

HNF1A gene mutations and primary ovarian failure

Open Access Primary Ovarian Insufficiency Case Study

HNF1A mutations are responsible for maturity-onset diabetes of the young (MODY). Coexistence of POF and MODY 3 in an adolescent girl raised the idea that these mutations might also have a role in POF.

Unusual presentation of lymphocytic hypophysitis

Open Access Hypophysitis Case Study

Awareness that lymphocytic hypophysitis can present without hypopituitarism is key as early intervention can prevent progression of visual disturbances and the need for surgery.

Follicular adenoma with a papillary architecture originating from an ectopic thyroid gland

Open Access Thyroid Disease Case Study

Ectopic thyroid is very rarely found as a solitary tumor in the submandibular region, but it should be considered in the differential diagnosis when papillary structures are seen on histopathology.

Thyroid gland blastomycosis

A rare case of thyroid gland blastomycosis in an immunocompromised man with a history of heart transplant who presented with leukocytosis and pneumonia. Blastomycosis was also evident in the heart, lungs, liver, pancreas, and skin.

Late onset of immune checkpoint inhibitor-induced type 1 diabetes

Open Access Type 1 Diabetes Case Study

A patient with small-cell lung cancer developed type 1 diabetes many weeks after receiving serplulimab, highlighting the need for continued monitoring of blood glucose levels and early signs and symptoms of diabetes.

Chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX

Open Access Metabolic Disease and Nutrition Case Study

A diagnosis of glycogen storage disease type IX is easy to overlook, but it should be considered in children presenting with unexplained hepatomegaly and elevated transaminase levels. Genetic analysis is vital for accurate diagnosis.

Refractory secondary hyperparathyroidism presenting with retro-orbital brown tumor

Open Access Hyperparathyroidism Case Study

A case of treatment-resistant hyperparathyroidism with severe complications in a long-term kidney dialysis patient, who presented with an atypically located adenoma that required comprehensive surgical intervention.

Severe pediatric pulmonary hypertension related to scurvy

Open Access Pulmonary Hypertension Case Study

Pediatric pulmonary hypertension related to vitamin C deficiency can manifest in multiple ways, from mild symptoms to life-threatening episodes characterized by pulmonary hypertensive crises. This educational study looks at two pediatric cases.