Endocrine Abstracts

Introduction: Graves thyrotoxicosis can be life-threatening if uncontrolled. Resistant thyrotoxicosis is not uncommon and may require urgent intervention. We present a case with severe refractory thyrotoxicosis which required urgent total thyroidectomy following bridging plasma exchange.Case History: A 35-year-old male with Grave’s disease presented with persistent thyrotoxic symptoms despite medical management for 10 months. Clinically he was hyper...

The CaSR, a G-protein-coupled receptor that regulates extracellular calcium (Ca2+o), predominantly signals via G-protein-αq/11 (Gαq/11), initiating IP3-mediated intracellular calcium (Ca2+i) accumulation, and mitogen-activated protein kinase (MAPK) signalling. CaSR also activates MAPK signalling via Gαi/o, or by associating with the scaffolding protein β-arrestin. CaSR g...

We report a case of a girl with severe short stature (-3.5 SD) from the age of 2 years. She was born at term with a normal birth weight (-1.3 SD) to non-consanguineous Pakistani/British parents. She had global developmental delay, hypotonia and microcephaly (-2.0 SD). She also had juvenile xanthogranuloma, alternating esotropia, constipation and initial feeding difficulties. Her current height is -2.9 SD with a normal BMI, aged 11. Serum IGF1 at age 2 years was <25 (49-289...

Introduction: There are several causes of sellar and suprasellar mass, and pituitary hyperplasia secondary to primary hypothyroidism has been reported in the literature.Case report: 20-year-old patient, born from a consanguineous marriage, presenting with failure to thrive. Patient reporting no tumor syndrom. Clinical examination: Height at 88 cm (<-4 SD), weight at 18 kg (<3rd percentile), BMI at 23 kg/m2. TANNER at G2P0, micropenis length of 5 ...

Loss- and gain-of-function mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), respectively. The CaSR is a homodimeric receptor that has a 612 amino acid extracellular domain (ECD), which binds extracellular calcium (Ca2+e) and mediates dimer interactions upon ligand binding. The ECD consists of lobes 1 and 2, and a cysteine-rich domain (CRD). To elucidate the struc...

Loss- and gain-of-function mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), respectively. The CaSR is a homodimeric receptor that has a 612 amino acid extracellular domain (ECD), which binds extracellular calcium (Ca2+e) and mediates dimer interactions upon ligand binding. The ECD consists of lobes 1 and 2, and a cysteine-rich domain (CRD). To elucidate the struc...

Background: Parathyroid crisis is a rare presentation with high mortality if unrecognized. Early surgery is curative with rapid symptom resolution and improved outcomes.Case Report: We describe a case of severe hypercalcaemia due to primary hyperparathyroidism in a 59 year old male who presented with symptoms of lethargy, confusion, reduced appetite, constipation, light headedness and vomiting. Clinical examination was unremarkable. He had normal inflamm...

Background: The mortality from COVID-19 is higher in DM patients compared to the general population. Hence, it is highly desirable that diabetic patients are vaccinated against COVID-19 infection in order to reduce their risk of contracting the disease and having devasting consequences from the infection.Aim: The aim of this study is to determine the willingness of type 2 DM patients to accept COVID-19 vaccine and the factors that influence their decisio...

Background: Through this study, we hoped to better understand the factors affecting recurrence-free survival in patients who have undergone curative intent resection for small bowel neuroendocrine tumors (SB-NETs). Extensive literature exists on recurrence predictors for pancreatic NETs but not for those of the small bowel. We hope to bridge this gap.Methods: We retrospectively evaluated patients who had received their index curative-intent operation for...

Background: Multiple unmet needs of patients diagnosed with a neuroendocrine tumor (NET) have been described in the literature, especially informational and psychological needs. A multidisciplinary approach has been suggested to improve overall care of NET patients. Trained patient advisors (PA) could complement the healthcare team, by providing a personalized accompaniment to patients based on their experiential knowledge, therefore helping to bridge this current gap. The aim...