hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

hrp0084p2-288 | Diabetes | ESPE2015

Functional Condition of the Kidneys (K/DOQI, 2002) by ACE Gene I/D Polymorphism in Children and Adolescents with Type 1 Diabetes Mellitus

Rakhimova Gulnara , Sadikova Akida , Alimova Nasiba

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

hrp0082p2-d1-328 | Diabetes | ESPE2014

Functional Condition of the Kidneys (K/DOQI, 2002) By ACE Gene I/D Polymorphism in Children and Adolescents with Type I Diabetes Mellitus

Sadykova Akidahon , Rakhimova Gulnara

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

hrp0084p1-16 | Bone | ESPE2015

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

Sawyer Eileen K , Anderson Karen

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

hrp0086p1-p108 | Bone & Mineral Metabolism P1 | ESPE2016

Tolerability and Feasibility of Whole Body Vibration and its Effects on Muscle Function and Bone Health in Patients with Dystrophinopathy

Petryk Anna , Polgreen Lynda , Marsh Jamie , Lowe Dawn , Hodges James , Karachunski Peter

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

hrp0095p1-291 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Bronchopulmonary dysplasia is not related to neurofilament light chain for neuroaxonal damage in preterm infants

Romijn Michelle , Baas Emma , Lissenberg-Witte Birgit , Onland Wes , Königs Marsh , Oosterlaan Jaap , Heijst Hans , Rotteveel Joost , van Kaam Anton , Teunissen Charlotte , Finken Martijn

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

hrp0082s4.3 | Recent Advances in Our Understanding of Hypothyroidism | ESPE2014

Novel Insights into Thyroid Hormone Resistance

Chatterjee V K K

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

hrp0084p2-376 | Fat | ESPE2015

Metabolic Syndrome Components of Normal Weight Central Obese Adolescents in Korea Stratified by Waist-To-Height Ratio: Results from K-NHANES 2008–2010

Cho Won Kyoung , Lee Hyun Young , Ahn Moonbae , Jung In-Ah , Kim Shin Hee , Cho Kyoung Soon , Park So Hyun , Jung Min Ho , Suh Byung-Kyu

Background: A subset of central obese but normal weight individuals has been identified, who harbor potentially increased risks for development of MS despite a normal BMI.Objective and hypotheses: We try to evaluate metabolic syndrome (MS) components of normal weight central obese adolescents in Korea stratified by waist-to-height ratio (WHR).Method: This is a cross-sectional study. Data were obtained from the Korean National Healt...

hrp0086p2-p400 | Gonads & DSD P2 | ESPE2016

Novel CYP17A1 Mutation and CYP21 Mutations in Two Siblings

Işık Emregul , Keskin Mehmet , Yeşilyurt Ahmet

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...