ESPE Abstracts

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

Introduction: Intracranial germ cell tumors (GCTs) are rare and likely to present with peripheral precocious puberty (PPP). We report the case of a 5-year-old boy with pineal GCT, in whom, although he presented with advanced peripheral precocious puberty, levels of β-chorionic gonadotropin (β-HCG) were mildly elevated, not diagnostic of GCT, posing a diagnostic dilemma.Methods: A 53/12 year- old boy ...

Background: Glucocorticoids regulate a broad spectrum of physiologic functions essential for life and exert their actions through their ubiquitously expressed glucocorticoid receptor (GR). The GR interacts with several molecules, including the non-coding RNA growth arrest-specific 5 (Gas5), which decreases the transcriptional activity of the GR by preventing its binding to DNA, and reduces tissue sensitivity to glucocorticoids.Objective and Hypotheses: T...

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

The Easypod™ Connect Observational Study (ECOS) was the first global study of easypod™, currently the only electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). ECOS reported accurate and robust real-time adherence data in a large cohort of patients. In this analysis, we assess the adherence of r-hGH administered via easypod™ in a cohort of Greek patients from ECOS (EMR200104-520, NCT01363674). Patients aged 2–18...

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

Background: A significant component of total linear growth is height gain achieved after the initiation of puberty. Children with Isolated GH Deficiency (IGHD) frequently come for evaluation around the peripubertal stage. Therefore, increasing pubertal height gain in IGHD children entering puberty with a relatively low height is important. Researchers have tried to assess effectiveness of treatment in such patients based on various key measurements and a variety of end-points....

Background: The natural evolution of euthyroid Hashimoto thyroiditis (HT) varies among children and treatment in children with HT and normal/mild elevated serum TSH is controversial.Objective and hypotheses: The aim was to study the natural course of HT in children and evaluate predictive factors of thyroid functionMethod: We evaluated data from 87 children retrospectively (63 girls, 24 boys), mean age 10.6±3.2yrs, with HT [an...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

Background: C-peptide, an indicator of own insulin production, is usually very low in patients with type 1 diabetes (T1D).Objective and hypotheses: The aim of the study was to evaluate C-peptide levels in children and adolescents and young adults with T1D and to correlate them with glycemic control.Method: Fasting C-peptide levels were measured with RIA, in 118 children, adolescents and young adults (60 females, mean age 13.3 <smal...