ESPE Abstracts

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

Background: Mutations in Steroidogenic factor 1 (SF-1; also known as NR5A1), a transcription factor involved in sexual differentiation, steroidogenesis and reproduction, have been associated with mild to severe XY and XX DSDs and adrenal failure. Asplenia and complete XY sex reversal were recently reported in a Palestinian patient homozygous for p.R103Q NR5A1 mutation.Clinical Cases: Five Pales...

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

Background: Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. The 2016 Cincinnati clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention is piloted. PEERS has previously been used in face-to-face interventions with male adolescents with autism spectrum conditions. This pilot project will be the first to examine the feasibili...

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

Background: Processing of Precursor 1 (POP1) is a core protein component of the Ribonuclease-Mitochondrial RNA Processing (RNase-MRP) enzymatic complex, an essential complex in all eukaryotes. Mutations in RMRP, encoding the RNA moiety of the complex cause cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders, characterized by severe disproportionate short stature. Recently, five patients harboring mutations in POP1 have been report...

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...

Objectives: To assess change in rates of pediatric CGM use over the past 5 years across demographic and clinical characteristics and association with hemoglobin A1c (HbA1c), data from 2 registries were compared: the US-based T1DX and the German/Austrian DPV.Methods: Registry participants in DPV and T1DX aged <18yrs with T1D duration ≥ 1yr with available data in any of the following years were included in the analysis (N for each year by registr...