ESPE Abstracts

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

WHO defines children born with intrauterine growth restriction (IUGR) as those with a birth weight below the 10th percentile of recommended birth weight by sex for gestational age. When gestational age is not available, a birth weight < 2500 g should be considered. The adult height in IUGR children treated with GH depends mainly on the duration of treatment and the age of initiation. Early diagnosis and early management before puberty are therefore imperative.<p class="...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing...

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...