Tumour-induced osteomalacia due to residual benign glomangioma.

Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome. The constellation of findings of unprovoked fractures, hypophosphataemia, urinary phosphate wasting and a negative genetic evaluation suggest a TIO diagnosis. Tumours leading to TIO are often small and difficult to localise using standard imaging studies. The 68Ga-DOTATATE CT/positron emission tomography, a somatostatin receptor imaging modality, is the radiographical study of choice for localisation. It is highly sensitive and specific since tumours that cause oncogenic osteomalacia have been shown to express somatostatin receptors. Complete surgical resection is the treatment of choice; however, it may not always be feasible. Burosumab, a human anti-fibroblast growth factor-23 monoclonal antibody, is a therapeutic option in cases of unresectable TIO to normalise phosphorus levels and improve fracture healing. Our patient was initiated on burosumab, which led to healing of his fractures and profound symptomatic improvement of his pain. TIO is often undiagnosed for many years, leading to significant patient morbidity.

A Benign Medullary Thyroid Cancer.

Metastatic dissemination occurs in up to 90% of patients with medullary thyroid cancer (MTC) greater than 4 cm in diameter, and elevated calcitonin levels of more than 500 pg/ml preoperatively have been shown to predict the failure to achieve biochemical remission. Herein, we present a patient with a large tumor and extremely elevated calcitonin level, who was subsequently found to show a "benign" behavior with no evidence of metastasis. The relatively benign behavior of this patient's MTC despite its size and extremely elevated calcitonin levels is thought to be suggestive of certain mutation types in MTC to be more associated with better prognostic outcomes. This case report highlights the value of genetic studies on disease prognostication and the need for comprehensive research studies on genomic profiling in MTC to better understand the relationship of different mutations with prognosis and outcome.

The Case of Sean Smith: A Three-Part Interactive Module on Transgender Health for Second-Year Medical Students.

Introduction: While great strides have been made in favor of the LGBT community overall, transgender individuals are still facing many legal challenges and suffer from more marked health issues and disparities compared to other members of the LGBT community. Our multimodal transgender curriculum was designed in accordance with the Kern model to address educational gaps in the area of transgender health. Methods: This three-part module consists of: (1) a didactic PowerPoint presentation reviewing unique health issues and disparities experienced by transgender patients, (2) a small-group session viewing and analyzing a pair of videos showcasing competent and poor communication between a provider and a transgender patient, and (3) a large-group patient panel featuring members of the transgender community. Results: One hundred and sixty-one students returned pre- and postworkshop surveys with 123 matched pairs. When comparing participants reported pre- and postworkshop confidence levels, the mean rating increased significantly for all three learning objectives. Based on a 5-point Likert scale (1 = poor, 5 = excellent), participants' mean ratings were highest for the patient panel at 4.5, compared to 3.9 for the large-group didactic lecture, and 3.8 for the small-group video session. Discussion: The use of this multimodal approach using a didactic session, video-based case discussion, and patient panel provided a strong foundation and primer for transgender health and resulted in an increase in learner confidence in module objectives regarding care for the transgender community.

Coexistence of Two Different Thyroid Malignancies: A Collision Phenomenon.

The term "collision tumor" is described as the coexistence of two or more histologically distinct neoplastic morphologies separated by normal tissue in the same organ. Simultaneous papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC) of the same thyroid lobe is a very rare pathology. Herein, we report a case of PTC and FTC of the same thyroid lobe. A 79-year-old man was evaluated at our hospital for the presence of left hip pain of two-month duration after sustaining a physical trauma to the left side of his body three days prior to admission. X-ray imaging of the left femur revealed a large lytic bony lesion at the proximal end of left femur. Biopsy of the bone lesion was suggestive of FTC. Computed tomography (CT) of the neck revealed an enlarged thyroid with a cystic lesion in the left lobe of the thyroid gland. Total thyroidectomy was performed. Histopathology revealed two separate primary malignancies of PTC and FTC. Genetic studies for RAS gene mutation were negative. He was initiated on suppressive doses of levothyroxine following thyroidectomy. Three months after surgery, thyrotropin alfa stimulated 204.5 mCi I-131 was administered. At seven months of follow-up, the thyroglobulin level was in the lower end of the normal range and anti-thyroglobulin antibody (anti Tg) remained negative (< 1.0 IU/mL). He was doing well and reported no symptoms. For each type of well-differentiated thyroid cancers, several genes have been identified. However, thus far, no specific gene mutation responsible for the pathogenesis of the different tumor types has been described. Management of thyroid collision tumor is usually complex due to the presence of different pathology in the tumor tissues and given the fact that literature on this condition is limited. Typically, the treatment needs to be individualized. Our report brings up a concept that the occurrence is a rare phenomenon of simultaneous mutation of different genes that could give rise to different thyroidal neoplasms.

Glucocorticoid-Associated Demise of a Patient With Duchenne Muscular Dystrophy.

We describe the clinical deterioration of a 26-yr-old man with Duchenne muscular dystrophy on oral daily high-dose deflazacort. Although this daily regimen was targeted to benefit ambulation and respiration, it resulted in premature death with lethal sequelae from liver failure, decubiti, diabetes mellitus, and morbid obesity. This case illustrates the need for further research weighing risk versus benefit of daily glucocorticoid therapy, specifically deflazacort, in Duchenne muscular dystrophy patients. Thus, curtailment of daily dosing to eliminate dire sequelae in patients living longer into adulthood than ever before is recommended.

Diagnosis of cyclic Cushing's disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes.

Background Cyclic Cushing's disease (CCD) is reported to occur in approximately 15% of patients with Cushing's disease (CD). CCD is a rare phenomenon in children. Case presentation A Portuguese female with well-controlled type 1 diabetes (T1DM) on an insulin pump developed transient uncontrolled blood sugar every morning. Increased basal and bolus insulin dosing was ineffective in lowering blood sugar and she began to miss school because of nausea, vomiting, fatigue, but no ketoacidosis. Therefore, other causes of sporadic hyperglycemia were explored. Multiple 6-h urinary free cortisol (UFC) samples revealed a spike in cortisol coincident with severe hyperglycemia. Pituitary magnetic resonance imaging (MRI) revealed a 3.5 mm microadenoma and inferior petrosal sinus sampling of adrenocorticotropic hormone (ACTH) after corticotropin releasing hormone (CRH) stimulation confirmed ACTH-dependent CD. Endoscopic endonasal tumor resection led to resolution of early morning hyperglycemia and symptoms. Discussion Our case illustrates an atypical presentation of CCD. There are no previous case reports of a pediatric patient with T1DM and CCD. Unexplained hyperglycemia in a patient with previous well-controlled T1DM should prompt assessment of other causes. CCD can be easily be missed if timed 6-h UFC measurements are not obtained.