hrp0089rfc5.5 | Thyroid | ESPE2018

Evidence for a Founder Effect in Multiple Endocrine Neoplasia 2

Fanis Pavlos , Skordis Nicos , Frangos Savvas , Christopoulos George , Spanou-Aristidou Elena , Andreou Elena , Manoli Panayiotis , Mavrommatis Michalis , Nicolaou Stella , Kleanthous Marina , Cariolou Marios A , Christophidou-Anastasiadou Violetta , Tanteles George A , Phylactou Leonidas A , Neocleous Vassos

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

hrp0089rfc7.4 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression of MIR-576-5p in Umbilical Cord as a Novel Biomarker for the Identification of Catch-up Growth in Small-For-Gestational-Age Infants

Bassols Judit , Mas-Pares Berta , Bonmati Alexandra , Xargay-Torrent Silvia , Carreras-Badosa Gemma , Lizarraga-Mollinedo Esther , Martinez-Calcerrada Jose-Maria , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Early catch-up growth, between birth and age two years, in infants born small-for-gestational-age (SGA) is a risk factor for the development of cardiometabolic diseases in adulthood. The basis and mechanisms underpinning catch-up growth in SGA newborns are unknown.Objectives: We aimed to investigate the catch-up predictive ability of cord blood miRNAs in SGA infants.Methods: MicroRNA PCR Human Panels were used to study ...

hrp0089rfc11.6 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Reference Values of Automated Bone Age and Bone Health Index for Mexican Children and Adolescents

Lora America Liliana Miranda , Espindola Montserrat Espinosa , Gonzalez Desiree Lopez , Loyo Mariana Sanchez-Curiel , Suarez Pilar Dies , Klunder Miguel Klunder

Background: BoneXpert is a software for automated measurement of bone age (BA) and radiogrammetry (bone health index). The precision error of the software for BA measure is smaller than the human rating error and the accuracy relative to the human routine ratings is 0.80 years. Differences in skeletal maturation between ethnicities have been reported, so it is important to have specific references for the own population.Objective: To present the automate...

hrp0089p1-p098 | Fat, Metabolism and Obesity P1 | ESPE2018

Placental Fatty Acid Profile, DNA Methylation and Adverse Metabolic Outcomes in the Offspring at School Age

Bassols Judit , Xargay-Torrent Silvia , Mas-Pares Berta , Lizarraga-Mollinedo Esther , Prats-Puig Anna , Bonmati Alexandra , Martinez-Calcerrada Jose-Maria , Zegher Francis de , Ibanez Lourdes , Lopez-Bermejo Abel

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

hrp0089p2-p144 | Fat, Metabolism and Obesity P2 | ESPE2018

Efficacy, Safety and Tolerability of Liraglutide, GLP-1 Analogue, in Indian Adolescent Population with Obesity

Sethi Aashish , Ramachandran Smita , Kochar Inderpal

Introduction: Liraglutide is a long-acting glucagon-like peptide-1 receptor agonist which directly stimulate POMC neurons and inhibit neuropeptide-Y and Agouti-related peptide neurons of the arcuate nucleus resulting in appetite suppression. It has been approved in adult population for obesity.Aim: To assess the Efficacy and Safety of Liraglutide in Indian Adolescent obese population.Materia...

hrp0089p3-p328 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A 45X0/46XY Girl Diagnosed with Prepubertal FSH Elevation

Haliloglu Belma

Aim: The 45,X/46,XY karyotype is rare with an estimated incidence rate of less than 1/15.000 live births. It represents from Turner females to phenotypically normal males with varying degrees of genital ambiguity. Although, high gonadotropin levels have been described in 0–5 years old girls with Turner syndrome, high FSH level is not well known finding in prepubertal girls older than 6 years.Case: A 6 y 8 m girl presented with lipomastia. She was bo...

hrp0089p3-p354 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Emblematic Case CAH

Chahin Silvia , Mejia Federico

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...

hrp0086wg5.2 | ESPE Diabetes Technology and Therapeutics Working Group | ESPE2016

SWEET: Developing Centers of Excellence (CoR)

Danne Thomas

Background: SWEET (www.sweet-project.eu) is a non-profit entity endorsed by ISPAD aiming to create an extensive network of certified CoRs for childhood diabetes in order to ensure high quality care.Objective and hypotheses: SWEET aims at an improved and more uniform care for people with diabetes through comparing processes and outcomes among participating members. The results of data analysis are conveyed to memb...

hrp0086fc10.4 | Perinatal Endocrinology | ESPE2016

In Utero and Postnatal Consequences of Psychological Maternal Stress have Different Effects On Longevity: Studies in World War 1 Orphans

Todd Nicolas , Valleron Alain-Jacques , Bougneres Pierre

Background: Early life stress (ELS) are known to have a deleterious impact on health, but their potential long-term consequences on mortality remain to be assessed. World War 1 (WW1) has caused major stress and bereavement to millions of European mothers.Objectives and hypotheses: To compare the effects of a maternal stress occurring during intra uterine or in postnatal life upon long-term mortality.Patients: Thanks to recently dig...

hrp0086rfc7.3 | Gonads & DSD | ESPE2016

Harmonisation of Serum Dihydrotestosterone Analysis: Establishment of an External Quality Assurance Program

Wudy Stefan , Hartmann Michaela , Jolly Lisa , Shun Ho Chung , Kam Richard , Joseph John , Boyder Conchita , Greaves Ronda

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...