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: Although type 1 diabetes is the most common type of diabetes in children, with the steady increase in type 2 and rare forms of diabetes, it may be sometimes difficult to ascertain the type of diabetes at the time of presentation. Some children present with a combination of features and do not fit into one of the classical types of diabetes. The rapid progress in the molecular genetics has helped to identify the specific diagnosis for these rare forms of diabetes....

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...

Insulin oedema is uncommon and poorly understood. It has been reported mainly in the adult literature. We present one of the youngest cases reported in the literature.A previously obese 9-year-old boy gradually lost weight over 18-month period and experienced polyuria and polydipsia for several months. He presented in diabetic ketoacidosis (blood glucose 24 mmol/l, pH 7.13, bicarbonate 6.6 mmol/l, potassium 3.13 mmol/l, urinary ketones 3+) which resp...

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 ...