Endocrine Abstracts

Introduction: The management of childhood obesity is complex and requires intensive input from a multidisciplinary team. Pharmaceutical interventions may be required in addition to lifestyle modifications to treat morbid obesity. In a double blind randomised controlled trial, liraglutide, a glucagon-like peptide 1 (GLP-1) agonist along with dietary and lifestyle interventions showed beneficial BMI reduction in children and adolescents. We present a morbidly obese adolescent wi...

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...

A 26-year-old Caucasian female presented at 14 weeks gestation with a 6-week history of lethargy, nausea and vomiting during her first pregnancy. Her adjusted Calcium was 4.12 mmol/l and parathyroid hormone (PTH) 26 pmol/l, consistent with possible primary hyperparathyroidism. She was previously well apart from occasional migraines. There was no known history of familial hypercalcaemia or MEN. Other biochemistry results revealed hypokalaemia of 3.2 mmol/l, low vitamin D at 16 ...

We present the case history of a 62 year old male, who was recently diagnosed with sarcoidosis which was confirmed on biopsy of a calf nodule. CT scan revealed pulmonary involvement. Our patient had low vitamin D 12 nmol/l (nr 50–100) and initial adjusted calcium was 2.48 mmol/l (2.13–2.63). DEXA bone density scan revealed osteopenia. He was commenced on loading dose of colecalciferol 40,000 units weekly and received 3 doses. He presented 1 month later with polydipsi...

Background: Thyrotoxicosis is one of the commonest endocrine disorders and its severe form can manifest as thyroid storm in acute setting leading to organ dysfunctions including heart failure. Cases: 1: A 58-year-old female with a significant past medical history of MI, paroxysmal AF/atrial flutter, and hyperthyroidism presented with a one-week history of palpitations, plethora, diaphoresis, heat intolerance, loose stools, and a TSH <0.01; Free T4-33...

Seasonal reproduction enables animals outside tropical regions to rear offspring in a favourable environment. Increasing day length triggers a hypothalamic relay involving thyrotropin, the type 2 deiodinase enzyme and thyroid hormone, which activates the hypothalamic-pituitary-gonadal axis to induce reproductive competence. Photoperiod regulates calcium metabolism and the egg-laying cycle in the Japanese quail (Coturnix japonica), and we hypothesised that activity of ...

Introduction: Incompletely controlled acromegaly has a three-fold excess all-cause mortality, with stroke being the predominant cause of death. Debate exists about the relationship between fractionated radiation (FRT) and risk of stroke, with radiation damage to cerebral vasculature potentially being a cause. We present outcomes in patients treated by gamma knife STRS at the National Centre for Stereotactic Radiosurgery in Sheffield, with...

Seasonal reproduction enables animals outside tropical regions to rear offspring in a favourable environment. Increasing day length triggers a hypothalamic relay involving thyrotropin, the type 2 deiodinase enzyme and thyroid hormone, which activates the hypothalamic-pituitary-gonadal axis to induce reproductive competence. Photoperiod regulates calcium metabolism and the egg-laying cycle in the Japanese quail (Coturnix japonica), and we hypothesised that activity of ...

Introduction: Incompletely controlled acromegaly has a three-fold excess all-cause mortality, with stroke being the predominant cause of death. Debate exists about the relationship between fractionated radiation (FRT) and risk of stroke, with radiation damage to cerebral vasculature potentially being a cause. We present outcomes in patients treated by gamma knife STRS at the National Centre for Stereotactic Radiosurgery in Sheffield, with...

Sphingosine-1-phosphate lyase 1 insufficiency syndrome (SPLIS) is a multisystemic syndrome in which primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome predominate, secondary to loss-of-function mutations in SGPL1 (sphingosine-1-phosphate lyase). SGPL1 carries out the irreversible breakdown of sphingosine-1-phosphate, a bioactive sphingolipid intermediate, with implicated roles in various cellular processes. Wider endocrinopathy including gonadal insuf...