hrp0092p3-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Rare Cause of Hypogonadotropic Hypogonadism: FGFR1Mutation

Mert Erbaş İbrahim , Paketçi Ahu , Acar Sezer , Kotan Damla , Demir Korcan , Abaci Ayhan , Böber Ece

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

hrp0092p3-250 | Thyroid | ESPE2019

Evaluation of Clinical, Demographic Data and Treatment Results of Cases with Graves' Disease

Aldemir Sönmez Alev , Mert Erbaş İbrahim , Paketçi Ahu , Acar Sezer , Demir Korcan , Böber Ece , Abaci Ayhan

Introduction: Graves' disease is the most common cause of hyperthyroidism in children and adolescents, characterized by development of stimulant antibodies against thyrotropin (TSH) receptors. Environmental and genetic factors are thought to be responsible in triggering autoimmunity.Materials and Methods: Twenty-nine cases, with Graves' disease diagnosed in Pediatric Endocrinology clinic between January 1999 and ...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0089p1-p040 | Diabetes &amp; Insulin P1 | ESPE2018

Poor Metabolic Control in Children and Adolescents with Type 1 Diabetes and Psychiatric Comorbidity

Sildorf Stine M , Breinegaard Nina , Lindkvist Emilie B , Tolstrup Janne S , Boisen Kirsten A , Teilmann Grete K , Skovgaard Anne Mette , Svensson Jannet

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

hrp0089p2-p141 | Fat, Metabolism and Obesity P2 | ESPE2018

Associations between Total Leptin, Bio-inactive Leptin, Soluble Leptin Receptor and Anthropometrics in Children with Severe Early-onset Obesity (SEOO) – the German-Polish Study (EOL-GPS)

Zachurzok Agnieszka , Malecka-Tendera Ewa , Petriczko Elzbieta , Mazur Artur , Pridzun Lutz , Flehmig Bertram , Schnurbein Julia von , Ranke Michael B. , Wabitsch Martin , Brandt Stephanie

Background: Severe early-onset obesity (SEOO) in children is more frequently observed in subjects with genetic disorders of which those of leptin pathway can be analyzed biochemically and genetically.Objectives: The aim of the study was to investigate anthropometrics and leptin parameters, specifically searching for bio-inactive leptin, in children with SEOO.Methods: Study cohort includes children ...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

hrp0089lb-p14 | Late Breaking P1 | ESPE2018

Beta-cell Function in Chinese Youngsters with Type 1 Diabetes and Assessment of Surrogate Markers of Severe Insulin Deficiency

Yuan Jinna , Derraik Jose G B , Fu Junfen , Dong Guanping , Cutfield Wayne S , Wu Wei , Huang Ke , Jiang Youjun , Chen Xiaochun

Objective: We assessed whether beta-cell function progressively decreases over time with greater type 1 diabetes mellitus (T1DM) duration using a mixed-meal tolerance test (MMTT). We also assessed simpler and more practical surrogate parameters for clinical use.Methods: We studied 57 children and adolescents with T1DM in Hangzhou (China), mean age at diagnosis was 8.3 years (range 2.3 to 15.3 years), with an average diabetes duration of 2.5 years (range ...

hrp0086fc3.4 | Pituitary | ESPE2016

A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation

Gregory Louise C. , Williams Hywel , Rahman Sophia , Ferreira Carolina B. , Alatzoglou Kyriaki S. , Kapoor Ritika R. , Hussain Khalid , Gaston-Massuet Carles , Kelberman Daniel , Qasim Waseem , Dattani Mehul T.

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

hrp0086fc14.4 | Growth : Mechanisms | ESPE2016

Preferential Paternal Transmission of the T Allele for the rs1802710 Polymorphism In Dlk1 Gene as a Pre- and Postnatal Growth Regulator

Prats-Puig Anna , Carreras-Badosa Gemma , Xargay-Torrent Silvia , Petry Clive J , Redondo-Bautista Lara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

hrp0086fc14.5 | Growth : Mechanisms | ESPE2016

Preferential Transmission of the Paternal C Allele of the rs9373409 Polymorphism in plagl1 Gene as a Regulator of Fetal Growth and Maternal Metabolism

Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Petry Clive J , Maldonado-Moreno Clara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...