ESPE Abstracts

Introduction: Obesity is a recognised risk factor for raised intracranial pressure in the adult population but is still under-recognised in children and young people. The pathophysiology of raised intracranial pressure in relation to obesity remains unclear. The aim of our study is to investigate the association between idiopathic intracranial hypertension (IIH) and obesity in children and young people.Method: Patients d...

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Background: The advantages of physical activity are particularly emphasized in children with type-1-diabetes and 60 minutes of regular daily activity is recommended. However, reports suggest that children with type-1-diabetes perform less than the recommended daily activity and are less active than their non-diabetic peers. This study aimed to: i) Identify barriers and sources of support for exercise performance in children and adolescents with type-1-diabetes. ii) Identify st...

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

Background: Children under 25 diagnosed with neuroendocrine tumors often suffer from Malnutrition which raises the risk of infections. Being immunocompromised, there is a marked reduction on quality of life (QoL) and health outcome. Malnutrition also enhances the incidence of postoperative complications such as delayed wound healing, wound dehiscence, morbidities and mortalities.Aims: To investigate malnutrition among children diagnose with neuroendocrin...

Objective: To estimate the prevalence of Celiac disease (CD) and autoimmune thyroid dysfunction (AITD) in children with Type 1 Diabetes.Study Design: The analysis included 177 (83 girls, 94 boys) children and adolescents with a diagnosis of Type 1 Diabetes who were followed up for a duration of more than 2years at Sir Ganga Ram Hospital, a tertiary care hospital in Northern India.Results</s...

Background: Diabetes Mellitus is the leading cause of morbidity and mortality especially in under developed countries like Pakistan. In type 1 Diabetes, there is autoimmune destruction of β cells which is genetically transmitted. Various factors are responsible for this autoimmune process like early use of cow’s milk, allergic food, absence of breastfeeding and various other factors.Objective: Our study aims to investigate the role of breastfee...

Prader Willi Syndrome (PWS) is characterized by hypotonia, developmental delay, short stature, small extremities, characteirstic facies, hyperphagia, obesity, hypogonadism, obstructive sleep apnea and other behavioral problems. We report twelve cases of PWS (four females, eight males) in the age group of 1–18 years being treated at Sir Ganga Ram Hospital, a tertiary care center in Northern India. In males, seven (87%) had cryptorchidism; in females, one (25%) had labia mi...