hrp0086p2-p268 | Diabetes P2 | ESPE2016

A Patient with a Rare Monogenic Diabetes Syndrome

Veetil Vimal Mavila , Pachat Divya , Krishnanunni Sudha , Naseerali M C , Majeed P Abdul

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...

hrp0086p2-p269 | Diabetes P2 | ESPE2016

Which Group of Children Achieved the Best Results During Insulin Pump Therapy – Long-term Outcome in Children with Type 1 Diabetes?

Ben-Skowronek Iwona , Piekarski Robert , Wysocka Beata , Bury Anna , Banecka Bozena , Krzewska Aleksandra , Sieniawska Joanna , Kabat Magdalena , Rebowicz Katarzyna , Osiak Wiktoria , Szewczyk Leszek

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

hrp0095p2-313 | Late Breaking | ESPE2022

A rare cause of precocious puberty: Hepatoblastoma

Jacob Anju , Elbejjani Mireille , Qazi Abid , Thalange Nandu

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...

hrp0089p3-p416 | Diabetes &amp; Insulin P3 | ESPE2018

A Rare and Unexpected Cause of Diabetes in Childhood

Makaya Taffy , Basu Supriyo , Ali Aishatu

Background: Pancreatogenic diabetes is rare in children. The prevalence is 5–10% of all cases of diabetes in the developed world. The underlying pathophysiology is destruction of islet cells by pancreatic inflammation.Case: A 15-year old previously healthy boy presented with polyuria, polydipsia, abdominal pain and loss of weight (LOW) over several weeks. Family history revealed a three-generational history of diabetes including reported type-1 (T1D...

hrp0094p1-84 | Pituitary A | ESPE2021

Pituitary Duplication – A rare and heterogenous spectrum

Goff Nicole , Murphy Nuala , Schwitzgebel Valerie , Castets Sarah , Katugampola Harshini , Stojanovic Marko , Petakov Milan , Gevers Evelien , Dattani Mehul ,

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

hrp0086p1-p464 | Fat Metabolism and Obesity P1 | ESPE2016

Central Obesity among European Preschool Children: The ToyBox-Study

Galcheva Sonya , Lateva Mina , Iotova Violeta , Androutsos Odysseas , Manios Yannis , De Bourdeaudhuij Ilse , Cardon Greet , Socha Piotr , Moreno Luis , Koletzko Berthold , on behalf of ToyBox-Study Group

Background: Waist circumference (WC) reflects the fat distribution and the degree of central adiposity in children, which is specifically associated with cardiovascular risk factors and useful as a component of metabolic syndrome definition in children.Objective and hypotheses: To evaluate the distribution of WC measures among preschool children aged 3.5–5.5 years from six European countries.Method: Cross-sectional study of a ...

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0082p2-d3-613 | Turner Syndrome | ESPE2014

Nationwide Study of Turner Syndrome During Childhood in Turkey: Evaluation of Associated Problems

Yesilkaya Ediz , Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Poyrazoglu Sukran , Aydin Banu Kucukemre , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Sari Erkan , Adal Erdal , Akinci Aysehan , Atabek Mehmet Emre , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Cinaz Peyami , Pediatric Endocrinology Turner Study Group

Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of a...

hrp0092p1-304 | Adrenals and HPA Axis (2) | ESPE2019

Identification of Novel and Rare CYP21A2 Variants in Chinese Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Xu Jing , Li Pin

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

hrp0084p1-51 | Diabetes | ESPE2015

Distribution of Obesity Indices Among European Preschool Children and Associated Risk Factors: The ToyBox-Study

Galcheva Sonya , Lateva Mina , Iotova Violeta , Bourdeaudhuij Ilse De , Cardon Greet , Androutsos Odysseas , Kulaga Zbigniew , Socha Piotr , Moreno Luis , Koletzko Berthold , Manios Yannis , Group ToyBox-study

Background: Childhood obesity is a serious health problem, related to an increased risk of adult morbidity and mortality. Evidence indicates that central adiposity increases this risk to a higher degree compared to the general obesity indices.Objective and hypotheses: To evaluate the distribution of anthropometric obesity indices among preschool children aged 3.5–5.5 years, from six European countries, and to examine their associations with certain ...