hrp0086p2-p156 | Bone & Mineral Metabolism P2 | ESPE2016

Physical Exercise Level is Associated to Peak Bone Mass in Undergraduate Students

Vargas Deisi Maria , Dominoni Robson Luiz , Nunes Carlos Roberto Oliveira , Sousa Clovis Arlindo

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...

hrp0086p1-p722 | Pituitary and Neuroendocrinology P1 | ESPE2016

Role of the Metabotropic mGlu5 Glutamate Receptor in the Initiation of Puberty and Reproduction in Female Mice

Inta Ioana , De Angelis Roberto , Domonkos Emese , Lankisch Katja , Boehm Ulrich , Gass Peter , Bettendorf Markus

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...

hrp0086p1-p899 | Thyroid P1 | ESPE2016

Clinical and Histopathologic Features and Follow-up of Paediatric Patients with Papillary Thyroid Cancer: A 10 Years Experience

de Jesus Zuart Ruiz Roberto , Serrano Bello Carlos Alberto , Sauza Jorge Cortes , Bravo Patricia Medina

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...

hrp0086p2-p934 | Thyroid P2 | ESPE2016

Thyroid Function in Children Affected By Congenital Hypothyroidism (CH) with Eutopic Thyroid After Discontinuation of Treatment with Levothyroxine

Poggi Elena , Gastaldi Roberto , Muraca Monica , Perri Katia , Pistorio Angela , Maghnie Mohamad

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

hrp0082p1-d1-68 | Diabetes | ESPE2014

Evaluation of Bone Geometry, Quality, and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

hrp0082p2-d2-303 | Bone (1) | ESPE2014

Cleidocranial Dysplasia Misdiagnosed as Rickets in Three Generations

Franceschi Roberto , Maines Evelina , Fedrizzi Michela , Rosaria Piemontese Maria , Bellizzi Maria , Cauvin Vittoria , Di Palma Annunziata

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

hrp0084p1-98 | Growth | ESPE2015

GH Excess in McCune–Albright Syndrome

Tessaris Daniele , Boyce Alison M , Matarazzo Patrizia , Lala Roberto , Collins Michael T

Background: McCune–Albright Syndrome is a combination of polyostotic fibrous dysplasia (BFD), café’-au-lait skin pigmentation and hyperfunctioning endocrinopathies. It results from postzygotic mutations in a-subunit of the Gsalfa protein and the consequent phenotype is a mosaic with high degree of clinical variability.Objective and hypotheses: The aim of the study is determine prevalence and characteristics of GH hypersecretion (GHH) in MA...

hrp0084p1-108 | Perinatal | ESPE2015

Liver ER Stress and Intrauterine Growth Retardation in Rats

Deodati Annalisa , Argemi Josepmaria , Puglianiello Antonella , Germani Daniela , Ferrero Roberto , Aragon Tomas , Cianfarani Stefano

Background: Endoplasmic reticulum (ER) is the site where proteins are folded. Perturbation of ER homeostasis activates a set of ER-to-nucleus signaling reactions known as the unfolded protein response (UPR). Metabolic stress causes UPR activation which contributes to the development of insulin resistance and metabolic syndrome. As UPR can be activated by nutrient and oxygen starvation, we postulated that intrauterine growth restriction may trigger UPR signaling and thereby con...

hrp0084p3-641 | Bone | ESPE2015

Evaluation of Bone Geometry, Quality and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

hrp0094fc8.1 | Neuroendocrinology | ESPE2021

Combined omic analysis revealed autism-linked NLGN3 as new candidate gene associated to GnRH neuron development and disease.

Oleari Roberto , Lettieri Antonella , Paganoni Alyssa , Howard Sasha R , Cariboni Anna ,

During development, gonadotropin releasing hormone (GnRH) neurons are born in the nasal placode and migrate to the hypothalamus, where they position to regulate sexual reproduction by pulsatile release of GnRH. Defective GnRH neuron development or action may lead to GnRH deficiency (GD) which is characterized by absent or delayed puberty. Several GD causative genes have been identified so far, but half of the cases are still idiopathic. The employment of complementary research...