ESPE Abstracts

Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors, including p65 (RelA), c-Rel, RelB, p50/p105 (NF-κB1), and p52/p100 (NF-κB2). Upon activation by a wide variety of stimuli, NF-κB translocates to the nucleus, where it modulates the expression of target genes involved in cell growth, survival, and death.Previous evidence indicates that NF-κB regulates bone growth and development. Mice deficient in both the N...

Background: Obesity in childhood and adolescence represents one of the most challenging public health problems of the 21st century owing to its epidemic proportions worldwide.Aim: The aim of our study was to determine the concentrations of apelin-12, vaspin and resistin in children and adolescents with overweight and obesity before and 1 year after the implementation of a lifestyle intervention program of diet, sleep and...

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspring’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

Background: GnRH neurons originate outside the CNS in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary–gonadal axis (HPG).Objective and hypotheses: We hypothesize that gene(s), whose products are important for pubertal development can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH)/...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...