hrp0095p1-259 | Diabetes and Insulin | ESPE2022

Tear Proteomics in Children and Adolescents with Type 1 Diabetes Mellitus and Correlation with Cognitive Function Levels

Nicolaides Nicolas , Makridakis Manousos , Kitani Rosa-Anna , Letsou Konstantina , Kressou Evangelia , Angelopoulou Eleni , Vasilakis Ioannis-Anargyros , Kosteria Ioanna , Mantzou Aimilia , Papassotiriou Ioannis , Varvogli Liza , Zoidakis Jerome , Kanaka-Gantenbein Christina

Background: Several studies have shown that type 1 diabetes mellitus (T1DM) may contribute to the early onset or acceleration of cognitive impairment (intelligence, psychomotor efficiency, information management speed, visual attention, visual perception and cognitive flexibility). Tear proteomics seems to provide useful information for understanding the molecular mechanisms of various ocular and systemic diseases.Objective and H...

hrp0095p1-548 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Legal degree of disability in childhood-craniopharyngioma survivors during long-term follow-up: Results of the HIT-ENDO study

Boekhoff Svenja , Eveslage Maria , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

hrp0095p2-6 | Adrenals and HPA Axis | ESPE2022

High carrier frequency of a nonsense p.W230X variant in HSD3B2 gene among Ossetians

Makretskaya , Kalinchenko Natalia , Tebieva Inna , Ionova Sofya , Marakhonov Andrey , Tiulpakov Anatoly , Zinchenko Nina Rena

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

hrp0095p2-289 | Thyroid | ESPE2022

Retrospective assessment of malignant thyroid nodules in a group of polish children and adolescents involving elastography

Borysewicz-Sańczyk Hanna , Sawicka Beata , Karny Agata , Bossowski Filip , Marcinkiewicz Katarzyna , Rusak Aleksandra , Dzięcioł Janusz , Bossowski Artur

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

hrp0092p1-358 | Fat, Metabolism and Obesity (2) | ESPE2019

Relationship Between RBP4 Level and Two of its Gene Polymorphisms with Body Composition and Metabolic Profile in Obese Children

Pascanu Maria-Ionela , Pop Raluca , Banescu Claudia , Hutanu Adina , Vasilache Simona , Marginean Oana

Background: The role of retinol binding protein 4 (RBP4) in the insulin resistance associated with obesity is still unclear and various studies have analyzed the role of its gene polymorphisms as a potential key to understanding the mechanisms involved.Aim: The current study aimed to analyze the relationship between RBP4 levels, the distribution of two SNP (rs3758539 and rs10882280) and the metabolic, anthropometric para...

hrp0092p3-305 | Late Breaking Abstracts | ESPE2019

Combined Surgical and Medical Treatment in an Adolescent with Severe Gynecomastia Due to Excessive Estradiol Secretion: A Case Report

Lee Miseon , Moon JungEun , Woo Ko Cheol , Seok Lee Joon , Dug Yang Jung

Background: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within two years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. There are no guiding recommendations for gynecomastia to date besides the suggestion to consider rapidly growing gynecomastia and brea...

hrp0089p3-p056 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta

Selveindran Nalini M , Hong Janet YH , Nawawi Nadiah Mohd , Murad Nor Azian Abdul , Jamal Rahman , Latiff Zarina Abdul , Aziz Bilkis Banu Abd , Zakaria Syed Zulkifli Syed , Zain Fuziah Md , Rasat Rahmah

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

hrp0089p3-p156 | Fat, Metabolism and Obesity P3 | ESPE2018

Neck Circumference and Lipid Profile in Adolescents with Overweight/Obesity

Arrais Ricardo Fernando , Nunes Amanda Caroline Pereira , Andrade Ana Suely de , Souza Angelica Luiza de Sales , Araujo Eduarda Pontes dos Santos , Soares Erika Aparecida de Araujo , Pimentel Jessica Bastos , Teixeira Suerda Isa Nascimento , Souza Thatyane Oliveira , Jaime Viviane Cassia Barrionuevo , Rezende Adriana Augusto de , Lima Severina Carla Vieira Cunha

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

hrp0086p2-p312 | Diabetes P2 | ESPE2016

A Novel Glucokinase Gen Mutation: Mody Type-2 Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Demirel Fatma , Tayfun Meltem , Ahmet Ucakturk Seyit , Gurbuz Fatih , Kemal Topaloglu Ali

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

hrp0086p1-p354 | Gonads & DSD P1 | ESPE2016

Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Küster-Hauser – MRKH Syndrome) and its Treatment

Gueniche Karinne , Ouallouche Chloe , Nataf Nicole , Bidet Maud , Cheikhelard Alaa , Paniel Bertrand-Jean , Louis-Sylvestre Christine , Morcel Karine , Viaud Magali , Elie Caroline , Baptiste Amandine , Aigrain Yves , Polak Michel

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...