ESPE Abstracts

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

South Asian (SA), British-born adults have increased cardiovascular (CV) risk factors compared to White Europeans (WE). Early detection of CV risk may allow intervention. The Manchester HAPO (Hyperglycaemia and Adverse Pregnancy Outcomes) cohort showed babies of SA origin were born significantly shorter, lighter and had a lower mean BMI SDS than those of WE origin. We now report ethnic differences in body composition and CV markers in childhood. Measurements on 102 children (5...

Background: Congenital hyperinsulinism possesses considerable clinical heterogeneity attributed partly to its diverse genetic causes.Objective: To present a boy with diazoxide unresponsive hyperinsulinaemic hypoglycaemia due to a homozygous recessive ABCC8 missense mutation, previously reported to be dominant acting and being inherited by his unaffected heterozygous parents.Material and results: The boy was a third preterm child of...

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...

Background: SREAT is a rare entity in children, with about 60 cases described to date. It is characterised by acute encephalopathy, elevated anti-thyroid antibodies and exclusion of other causes of encephalopathy like infection, tumour, toxic or metabolic diseases. Typical presentations in children include behaviour changes, psychosis and seizures. The role of anti-thyroid antibodies in the pathogenesis is not clearly understood, and the titre level does not predict severity o...

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements.Objective and hypotheses: We engineered prosthetic models of different size testes to investigate the reliability of TV estimation.Method: The study was ...

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...