ESPE Abstracts

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...

Introduction: Proton beam therapy (PBT) is being used increasingly for craniopharyngioma, as it is perceived to be a major benefit. There are some limited data relating to endocrine dysfunction following PBT, but very limited data on hypothalamic disturbance. Here we report two patients who presented with hypothalamic disruption immediately following PBT for craniopharyngioma.Case 1: A 12 year old girl presented with sei...

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...

Introduction: Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.Method: In this retrosp...

Introduction: Primary adrenal insufficiency in paediatrics is uncommon but lethal condition, it results most commonly from congenital adrenal hyperplasia1. Short Synacthen Test (SST) is widely used to assess the glucocorticoid synthesis in the adrenal glands. Synacthen doses are age-based; 62.5mcg for babies younger than 6months, 125mcg for infants between 6-24months and 250mcg for children older than 2years. There is a controversy amongst endocrino...

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

Background: Duplication of the long arm of chromosome 4 has been described in more than 60 patients. The severity and specificity of associated symptoms depend on the size and location of the duplication, and which genes are involved.Reported features include developmental delay, intellectual disability, birth defects, hypotelorism, growth retardation, short neck, dysmorphism, and abnormalities to the extremities.Objective: To report a two-year old child...

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...

Background: Diagnostic criteria for polycystic ovarian syndrome (PCOS) are well established in the adult population, but may not be appropriate for adolescent girls. Clinical and/or biochemical hyperandrogenism is one important diagnostic criterion. Screening for hyperandrogenism is often restricted to measurements of testosterone in adult practice. It was our impression that this strategy would under-diagnose PCOS in our adolescent population.Objective ...

Background: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...