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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Rapid Free Communications

Multisystem Endocrine Disorders

hrp0089rfc14.1 | Multisystem Endocrine Disorders | ESPE2018

Psychometric and Psycho-social Profile of Children and Adolescent Survivors of Pediatric Cancer

Bacopoulou Flora , Mavrea Kalliopi , Adamaki Christina , Efthymiou Vasiliki , Katsibardi Katerina , Kattamis Antonis

Objective: The aim of this study was to compare the psychometric and psychosocial profile of children and adolescents survivors of pediatric cancer to that of healthy controls.Methods: Children and adolescents survivors of pediatric cancer, aged 7–17 years, who attended the Hematology-Oncology Unit of the First Department of Pediatrics, and healthy controls who visited the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of ...

hrp0089rfc14.2 | Multisystem Endocrine Disorders | ESPE2018

British Society for Paediatric Endocrinology and Diabetes Peer Review of Specialised Paediatric Endocrinology Services in the UK - Evaluation of the Outcomes

Schulga Joihn , Mitchell Heather , Musson Pauline , Shaw Nick , Patel Leena

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...

hrp0089rfc14.3 | Multisystem Endocrine Disorders | ESPE2018

Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation Syndrome

Musthaffa Yassmin , Goyal Vikash , Harris Margaret-Anne , Kapur Nitin , Leger Juliane , Harris Mark

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

hrp0089rfc14.4 | Multisystem Endocrine Disorders | ESPE2018

A Novel Germline DICER1 Mutation in a Girl with Multinodular Goiter and Ovarian Sertoli-Leydig Cell Tumor

Settas Nikolaos , Michala Lina , Berthon Annabel , Faucz Fabio , Iliadi Alexandra , Gkika Anna , Dacou-Voutetakis Catherine , Stratakis Constantine , Voutetakis Antonis

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...

hrp0089rfc14.5 | Multisystem Endocrine Disorders | ESPE2018

Natural Course of MEN Type 2B Syndrome; a Dutch Single-Center Cohort

Rijks Ester , Valk Gerlof , Stuart Annemarie Verrijn

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare endocrine disease associated with early and aggressive medullary thyroid carcinoma (MTC), pheochromocytoma and several non-endocrine manifestations. MEN 2B is often diagnosed late, when symptomatic thyroid disease is present. Recognition of early, often non-endocrine, manifestations is elemental and may lead to early intervention through early diagnosis. However, early recognition is complicated by both the br...

hrp0089rfc14.6 | Multisystem Endocrine Disorders | ESPE2018

Identification of Epithelial Sodium Channel (ENaC) in Endometrial Pipelle Biopsy Samples

Boggula Vijay , Hanukoglu Israel , Sagiv Ron , Enuka Yehoshua , Hanukoglu Aaron

Background: The fluid milieu along the female reproductive tract has a major role in a complex series of events that follow oocyte ovulation. These include oocyte transport in the fallopian tube, the transport and capacitation of sperm, fertilization, transport of the blastocyst and implantation of the embryo in the uterus. These processes are regulated by the activity of ion channels located on the surface of endometrial epithelia. In our previous studies we showed that epith...