Endocrine Abstracts

Glucose is essential for cerebral metabolism. Knowledge of the homeostatic mechanisms that maintain blood glucose concentrations within a tight range is the key for diagnosis and appropriate management of hypoglycemia. Neonatal hypoglycemia can be transient and is commonly observed in at-risk infants. A wide range of rare endocrine and metabolic disorders can present with neonatal hypoglycemia, of which congenital hyperinsulinism (CHI) is responsible for the most severe form o...

Introduction: McCune-Albright syndrome (MAS) is a rare disorder characterized by skeletal lesions, skin hyperpigmentation, and hyperfunctioning endocrinopathies. It is due to the postzygotic gain-of-function mutations in GNAS1, which encodes the α-subunit of the Gs signaling protein. Case 1: A 13 year old boy presented initially with a femur fracture at the age of 5.5 years following minor injury. Café au lait patches were noted. Bone ...

Introduction: Childhood obesity is a severe public health concern. Various complications are recognised in adults, but the data remains limited in the paediatric population. Therefore, the aim of this study is to investigate the complications observed in children and young people (CYP) with obesity.Method: Retrospective data collection from 125 CYP aged between 0 and 18 years with a body mass index (BMI) standard deviation score (SDS) of two or more abov...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is due to mutation in ABCD1 with variable clinical phenotype and severity. Elevated plasma VLCFA is seen in all affected males. However, the clinical phenotype is not collated with VLCFA plasma concentration or by the type of ABCD1 variant. Clinical presentation can be widely variable ranging from childhood cerebral adrenoleukodystrophy (CALD), adolescent CALD, adrenomyloneuropathy and/or adrenal insufficiency. We present a s...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive condition due to mutation in the autoimmune regulator (AIRE) gene which leads to a variable phenotype with endocrine and nonendocrine multisystem involvement. We present a challenging case of APECED with auto immune hepatitis, mineralocorticoid deficiency and short stature.Case history: A 8-year-old girl born to consanguineous parents, presente...

Introduction: Childhood obesity is associated with complications, such as type 2 diabetes mellitus (T2DM). The use of continuous glucose monitoring (CGM) in diabetes mellitus is well established, but there is limited research evaluating the role of CGM in childhood obesity. The aim of this study was to investigate the use of CGM in identifying glycaemic dysregulation in children and young people (CYP) with obesity and the effect of lifestyle therapy.<p cla...

The rising prevalence of childhood obesity is a major public health concern. Approximately 21% of children by the age of eleven are clinically obese, with a further 14% classed as overweight. The causes of obesity of childhood obesity are multifaceted, leading to a complex multi-disciplinary management approach. A high proportion of children and young people do not meet the recommended guidelines of a minimum of 60 minutes physical activity per day. In addition to the barrier&...

Introduction: Raised intracranial pressure is a well-documented complication of obesity in the adult population, but this remains under-recognised in children and young people. The pathophysiology for this association remains unclear, but the complications of raised intracranial pressure can be devastating including potential visual loss. Therefore, the aim of our study was to investigate this link in children and young people.Method: Retrospective data ...

Introduction: Type 2 diabetes mellitus is a known complication of childhood obesity. It is currently diagnosed by undertaking an oral glucose tolerance test (OGTT). Continuous glucose monitoring (CGM) is used predominantly by patients with type 1 diabetes mellitus to monitor glucose levels.Aim: The aim of the study was to investigate glycaemic variation in children and adolescents with obesity who have had no evidence of pre-diabetes or type 2 diabetes o...

Introduction: Childhood obesity continues to prove a major public health concern, with obesity and metabolic syndrome becoming increasingly prevalent in children and young people with type 1 diabetes mellitus (T1DM). Glucagon-like peptide 1 (GLP-1) therapy has shown promising results for weight loss in adults with type 2 diabetes mellitus (T2DM) and has recently been licensed for the treatment of adolescents living with obesity. Liraglutide has been shown to be beneficial in f...