hrp0084p3-859 | Fat | ESPE2015

Long-Term Effects of Neonatal Over-Nutrition on Metabolic Equilibrium are Age and Sex Dependant

Argente-Arizon Pilar , Ros Purificacion , Diaz Francisca , Fuente-Martin Esther , Barrios Vicente , Chowen Julie A , Argente Jesus

Background: Neonatal over-nutrition (NON) can have a long-term effects on energy homeostasis and some of these effects may be sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and cytokine levels throughout development and if these changes are sexually dimorphic. We hypothesised that the effects would be both age and sex dependant.Methods: At birth, Wistar rats wer...

hrp0082p2-d1-285 | Bone | ESPE2014

Mutations in IFITM5 Leading to Prenatal and Postnatal Signs of Dominant Osteogenesis Imperfecta

Hoyer-Kuhn Heike , Netzer Christian , Becker Jutta , Schoenau Eckhard , Semler Oliver

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

hrp0097p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Low bone mineral density in children with Cerebral Palsy and its risk factors: finding a way to prevent secondary osteoporosis

Lindblad Pedersen Marianne , Mol Debes Nanette , Engel Høi-Hansen Christina , Johannesen Jesper

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

hrp0092p3-234 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Diagnostic Dilemma in a 46 XY Female

Waldner Richelle , Rosolowsky Elizabeth , Caluseriu Oana , Grimbly Chelsey

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

hrp0094p2-488 | Thyroid | ESPE2021

The state of iodine deficiency in Krasnoyarsk territory according to results of neonatal TSH screening in 2019

Osokina Irina

Background: Iodine deficiency is associated with goiter and impaired brain function. Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency. In the absence of iodine deficiency, the frequency of neonatal TSH above 5 mU/L whole blood is less than 3%. A frequency of 3%-19.9% indicates mild IDD. Frequencies of 20%-39.9% indicate moderate and above 40% severe IDD.The aim: to ...

hrp0097p2-90 | Multisystem Endocrine Disorders | ESPE2023

Autosomal dominant hypocalcemia: A diagnostic and therapeutic challenge

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Azpilicueta Idarreta Maria , de la Camara Moraño Carmen

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

hrp0086fc8.4 | Growth: Clinical | ESPE2016

Genetic Insights from Children with Idiopathic Short Stature in the EPIGROW Study

Perchard Reena , Murray Philip , Payton Anthony , Clayton Peter

Background: EPIGROW was a prospective European epidemio-genetic study in children with idiopathic short stature (ISS).Objectives: To identify (1) differences in frequencies of single nucleotide polymorphisms (SNPs) in growth related genes between ISS children and controls, and (2) associations between growth characteristics, IGF status and SNPs in these genes.Methods: Sequence data from EPIGROW was used to determine the difference ...

hrp0086p1-p30 | Adrenal P1 | ESPE2016

Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method

Cao Bingyan , Gong Chunxiu , Guo Yongli , Wu Di

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

hrp0086p2-p857 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Case of Familial Silver-Russell Syndrome

Hoppmann Julia , Netchine Irene , Eggermann Thomas , Jamra Rami Abou , Kiess Wieland , Pfaffle Roland

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectivel...