Case Reports in Endocrinology

Riedel’s thyroiditis is a rare disease of chronic inflammation with fibrotic infiltration of the thyroid gland and its surrounding vital structures. Due to its low incidence, there are often delays in diagnosis as it is commonly mistaken for other thyroid diseases. We report the case of a 34-year-old female patient who presented with a firm, enlarged mass in the neck, compression symptoms, and hypothyroidism. Lab tests showed elevated A-TG (thyroglobulin antibodies) and A-TPO (thyroid peroxidase antibodies) levels. Based on the disease presentation and supporting lab findings, the patient was misdiagnosed with Hashimoto’s thyroiditis and treated accordingly. Yet the patient’s symptoms grew progressively worse. She was discovered to have severe tracheal compression and bilateral RLN (recurrent laryngeal nerve) palsy. Tracheotomy became a necessary surgical intervention after the development of respiratory failure, but this procedure was complicated by the development of an intraoperative pneumothorax. After an open biopsy, histology revealed Riedel’s thyroiditis. A new treatment was introduced, with which the patient’s condition improved. However, she continued to suffer from the open tracheocutaneous fistula left by the tracheostomy, which adversely affected her everyday life. A follow-up operation was performed to close the fistula. In this case report, we discuss the consequences of misdiagnosing the patient and delaying the appropriate treatment for her disease.

Background and Objective. Mounting evidence implicates COVID-19 as a cause of thyroid dysfunction, including thyrotoxicosis due to both thyroiditis and Graves’ disease (GD). In this report, we present a case of thyrotoxicosis following COVID-19 infection that was ultimately found to represent GD with significantly delayed diagnostic serum antibody positivity. Case Report. A 65-year-old woman with a history of uncomplicated COVID-19 infection one month prior, presented to the Emergency Department with exertional dyspnea and palpitations, and was found to be in atrial fibrillation with rapid ventricular response (AF with RVR). Labs showed subclinical hyperthyroidism and the patient was started on a beta-blocker and methimazole. One month later, thyroid-stimulating immunoglobulin (TSI) resulted negative and thyroid function tests had normalized. The clinical picture suggested thyroiditis, and methimazole was stopped. One month later, the patient again presented in AF with RVR, with labs showing overt biochemical thyrotoxicosis. Antibodies were re-tested, and the thyrotropin receptor antibody (TRAb) and TSI resulted positive, confirming GD. Discussion. Most notable in this case is the feature of delayed GD antibody positivity: the diagnostic immunoassay for GD resulted negative one and two months after infection, but was ultimately positive three months after infection. To the authors’ knowledge, this represents the longest delayed antibody positivity reported to date, amongst cases of new-onset GD following COVID. Conclusion. The clinical course of GD following COVID-19 infection is highly variable. This case underscores the need for vigilance in monitoring for delayed GD antibody positivity due to the important therapeutic implications of distinguishing thyroiditis from GD.

Background. Iatrogenic Cushing’s syndrome is commonly seen as a complication of chronic steroid use. While most often associated with the use of prescription oral steroids, rare cases result from unintentional steroid exposure. In particular, numerous complementary and alternative medicines have been found to contain steroids not previously known to users. Case Presentation. Here, we present a case of iatrogenic Cushing’s syndrome caused by prolonged ingestion of dexamethasone found within an over-the-counter arthritis supplement called Artri King. Conclusion. A thorough history of medication use to include over-the-counter medications and supplements may be required to identify the source of exogenous glucocorticoids in iatrogenic Cushing’s syndrome.

Background. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. Case Presentation. An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels. Conclusion. The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.

Brachymetacarpia and brachymetatarsia are unique clinical entities associated with numerous rare conditions. Primary hypoparathyroidism is distinct from pseudohypoparathyroidism and pseudopseudohypoparathyroidism by lacking skeletal changes such as short metacarpals or metatarsals. Here, we present a case of a 64-year-old patient with brachymetacarpia and brachymetatarsia presented with hypocalcemic symptoms and signs, bilateral cataracts, and basal ganglia calcifications, subsequently diagnosed with idiopathic primary hypoparathyroidism. This is a rare case describing such an infrequent observation of brachymetacarpia and brachymetatarsia in primary idiopathic hypoparathyroidism.

Diabetic ketoacidosis (DKA) is a life-threatening medical emergency that occurs in both type 1 and type 2 diabetes mellitus. Here, we describe the case of a 49 year-old male patient with type 2 diabetes mellitus who presented to the emergency department with complaints of epigastric abdominal pain and intractable vomiting. He had been on sodium-glucose transport protein 2 inhibitors (SGLT2i) for 7 months. Considering the clinical exam and lab findings with a glucose level of 229, a diagnosis of euglycemic DKA was made. He was treated according to DKA protocol and discharged. The relationship between SGLT2 inhibitors and euglycemic DKA remains to be explored; given the absence of clinically significant hyperglycemia during the presentation, a delay in diagnosis may be observed. After an extensive literature review, we introduce our case presentation in the setting of gastroparesis in comparison to previous reports and suggest future improvements in terms of early clinical suspicion for euglycemic DKA.