ESPE Abstracts

There is now considerable epidemiological and experimental evidence indicating that early life environmental signals, including nutrition, affect subsequent development. It is now quite clear that a relationship exists between the periconceptional, fetal and early infant phases of life and the subsequent development of chronic diseases including obesity and type 2 diabetes. This relationship, the ‘developmental origins of health and disease’ (DOHaD), suggests that th...

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...

Introduction: Patients with diabetes are encouraged to achieve good glycaemic control to reduce the risks of complications. Many factors are associated with glycaemic control.The objective of this study was to evaluate factors associated with good glycaemic control among a cohort of children and young people with type 1 diabetes in Lancashire United kingdom.Methods: All children and young people wi...

Case Report: A 7 years 5-month-old female presented in our clinic for evaluation of early pubertal development. Parents reported telarche occurring at age 6 years and menarche at age 7 years and 3 months. No history of development of pubic or axillary hair, adult body odor, or acne. Mother had menarche at 13 years of age. Physical examination revealed a height of 138 cm (>95th centile). Mid-parental height was calculated at 157 cm (20th centile). She was found to be Tanner...

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Background: There is evidence that unstimulated LH concentrations may be appropriate to monitor hormone suppression in children with central precocious puberty (CPP) during treatment with gonadotropin-releasing hormone agonists (GnRHa). Literature suggests that unstimulated LH concentrations <0.3 and >0.8 IU/L are prepubertal and clearly pubertal, respectively. We present secondary analyses of unstimulated LH suppression data from the pivotal trial of th...

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...

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...