ESPE Abstracts

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

Background: Obesity is a metabolic disorder associated with increased PAI-1 levels in the circulation. This increase is related to insulin resistance and cardiovascular disease (CVD). In adults the relationship between plasma PAI-1 levels and the 4G/5G gene polymorphism in the PAI-1 gene has been demonstrated, but few data exist in children.Objective and hypotheses: To assess the relationship between PAI-1 plasma levels and the PAI-1 4G allele gene polym...

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...

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...

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....