ESPE Abstracts

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. In our cohort of patients with familial self-limited delayed puberty (DP) we have demonstrated mutations in IGSF10 leading to mis-regulation of the embryonic migration of GnRH neurons (Howard et al, EMBO MM 2016). We aimed to discover novel genetic mutations in pathways regulating GnRH neuronal migration and developme...

Background: Endoplasmic reticulum (ER) is the site where proteins are folded in the cell. Metabolic stress alters ER homeostasis and activates the unfolded protein response (UPR), which contributes to the development of insulin resistance and metabolic syndrome.Objective and hypotheses: To longitudinally evaluate liver UPR and its functional consequences in an animal model of IUGR followed from birth to adulthood.Method: On day 19 ...

Background: Promotion of high pick bone mass is one of the strategies to prevent osteoporosis in adult life. Undergraduate students are still in the age group of mineral acquisition and, therefore, their lifestyle may influence this process. Physical exercise is an important lifestyle characteristic for optimize peak bone mass (PBM).Objective: To evaluate bone mass in undergraduate students with different lifestyle.Methods: Observa...

Background: The neuroendocrine mechanisms of the initiation of puberty are still incompletely deciphered. Accumulating data indicate a main role of the glutamate system in regulating hypothalamic GnRH. However, the underlying neurobiological mechanisms are yet poorly investigated. Mice lacking metabotropic mGlu5 receptors (mGluR5) show sever unexplained infertility.Objective and hypotheses: We aimed in the present study to analyze the specific role of mG...

Background: The incidence of paediatric papillary thyroid cancer (PTC) is increasing.Objective and hypotheses: To describe the clinical and histopathologic features at diagnosis, and follow-up of paediatric patients with PTC at Children’s Hospital of Mexico in a 10 years period.Method: Comparative longitudinal study. We included 22 paediatric patients with histopathologic diagnosis of PTC between 2004–2014, divided into r...