ESPE Abstracts

Introduction: Menarche is the time of first menstrual bleed and it occurs, on average, 2 to 2.5 years after the onset of puberty. Globally, the age of menarche had been reduced since the last century.Objective: To examine the evolution of the age of menarche over the last decades and inter-regional variability in an autonomous community located in northern Spain which is divided in eight health areas.<p class="abstex...

Introduction: Neurotensin is a 13 amino acid peptide with central and intestinal effects. It has been shown to decrease intestinal and gastric motility, increase the absorption of fat by regulating the release of pancreas and bile acid. In addition, it is reported that there is also an anorexigenic effect of the neurotensin released from the central nervous system. In the literature, conflicting results related to serum / plasma neurotensin levels were reporte...

Introduction:The incidence of obesity increases unstoppably in all populations and at all ages, and with it, the associated metabolic morbidity and mortality. The promotion of physical activity and a healthy diet are the fundamental elements to alleviate this situation. The objective of this study is to determine the relationship of physical activity and eating patterns with body composition, the degree of adiposity and certain metabolic risk factors.<p cl...

Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatme...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

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:...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...