Endocrine Abstracts

Background: Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion causing persistent hypoglycaemia. In around 50% of the patients with CHI, the underlying molecular genetic etiology is unknown. Ca2+/calmodulin-dependent protein kinase 2 (CaMKK2) belongs to the Serine/Threonine protein kinase family. Alternative splicing results in multiple transcripts encoding distinct isoforms. We report, for the first time, CaMKK2 mutati...

Hypogonadotropic hypogonadism (HH) is a rare reproductive disorder that results in a lack of normal pubertal development and reduced potential for fertility in adult life. The condition is characterised by low circulating sex steroid concentrations resulting from a deficiency of pituitary gonadotropin production. HH may be congenital or acquired, most commonly due to tumour or treatment for malignant disease. When associated with anosmia it is termed Kallmann syndrome. HH is a...

Background: The highest rates of childhood obesity are among children from lower socioeconomic groups. Tier 3 weight management services for children currently rely on an MDT approach that is focused on the management of complications associated with excessive weight, but the resources are generally limited. Evidence suggests that the input in the community is key to empower children, young people, and their families to make healthy lifestyle changes, although the availability...

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogeneous disorders causing parathyroid hormone (PTH) resistance. The features could include Albright’s hereditary osteodystrophy phenotype (AHO) [brachydactyly, short stature, obesity, round face, ectopic ossifications, intellectual disability]. The condition is rare with an estimated prevalence of 0.34-1.1 in 100,000 and the clinical presentation can be variable. Herein, we present 8 patients with PHP from t...

Introduction: Evaluating hunger and hyperphagia is an important component of assessing children and young people with obesity. Identifying increased hunger levels will help clinicians and health professionals to taper management aspects including relevant genetic testing and providing tailored dietary and pharmacological management.Aim: The aim of this study was to evaluate the baseline hunger levels in a group of UK adolescents with severe obesity.<...

Introduction: Visceral body fat has been shown to correlate with complications related to obesity. Body mass index (BMI) is widely used to define obesity in the adolescent population; however, it does not take the overall body composition into account. We present body composition data in a group of UK adolescents attending the tertiary MDT weight management service.Methods: Data was collected on 31 patients (M:F = 15:16) attending the MDT service over a ...

Introduction: Childhood obesity is associated with several complications related to physical and mental health. Determining health-related quality of life (HRQOL) is an important outcome measure to ensure patients receive the appropriate care.Aim: We report the baseline HRQOL in a group of UK children and adolescents with severe obesity who were managed in a Tier 3 weight management service.Methods: Paediatric quality of life (Peds...

Introduction: The prevalence of childhood obesity is continuing to increase, especially in more deprived areas. It is estimated that 28% of children are overweight or obese in England. Evidence has shown that obesity is associated with increased intracranial pressure (ICP) in adult and paediatric populations. We report three patients who presented with intracranial hypertension due to severe obesity.Case 1: A fifteen-year-old girl presented with severe h...

Case report: A 13-year-old male presented with a 10-day history of vomiting. He was haemodynamically stable. His biochemistry was evaluated revealing a sodium level of 96 mmol/l. He had been seen 2 years previously with short stature. Sodium was normal at this time. He had speech and language delay, learning difficulties and was under investigation for autism. He had reportedly salt craved for years. Potassium, urea, creatinine, and glucose were normal throughout the admission...

Background: Animal studies have demonstrated relationships between Vitamin D and glucose homeostasis. There is paucity of evidence examining the relationship between the glycemic control in children with Type 1 Diabetes Mellitus (T1DM) and vitamin D status.Objective: To determine the effects of vitamin D status on the glycemic control in children and adolescents with T1DM.Methods: Retrospective data were collected on 348 children a...