ESPE Abstracts

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...

Introduction: Osteogenesis imperfecta (OI) is a rare heterozygous disorder of collagen production. It is characterized by low bone mass, bone fragility, blue sclera, and progressive hearing loss. Expanded Sillence Classification divides OI into 7 types with Type I OI as the mildest and commonest form. Hyperplastic callus (HC) is a rare but characteristic complication in patients with OI type V. We report a infant with Type I OI with hyperplastic callus.<p ...

Background: Gonadotropin-releasing hormone agonist (GnRHa) treatment is widely used for central precocious puberty (CPP). Although some authors found increases in body mass index (BMI) in girls after GnRHa treatment, most studies reported no significant difference in BMI in girls during and after treatment. However, few studies have investigated changes in BMI in boys with CPP during and after GnRHa treatment. Hence, we aimed to evaluate the effects of GnRHa t...

Introduction: Nonadherence to insulin therapy is a significant problem worldwide, which is associated with poor health outcomes among patients with type 1 diabetes (T1D). It is important to identify the risk factors related to nonadherence to target those at higher risk of diabetic complications. In Singapore, there is a knowledge gap in understanding the risk factors for insulin nonadherence in paediatric patients with T1D.Objectives: To assess the prev...

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...

Background: Distribution of TSH levels is not normal. This is due to physiological changes that cause temporary increases in TSH during physiological events. Several methods are used to normalize the distribution when defining normal limits.Objective and hypotheses: To compare the normal limits defined by three normalization methods vs non-normalized distribution based on a large cohort with no known thyroidal illness.Method: Data ...

Background: Referrals to pediatric endocrine clinics for short stature are common. Height velocity (HV) is an essential component of the evaluation of short stature as growth deceleration often reflects an underlying pediatric endocrine diagnosis (PED). Access to previous measurements facilitates prompt calculation of HV.Objective and hypotheses: To determine availability of previous measurements at time of referral for short stature, to characterize PED...

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...