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...

hrp0097p2-252 | Late Breaking | ESPE2023

Pump management of genetic and autoimmune diabetes under 1 years old: two case reports.

Martino Mariangela , Gutierrez De Rubalcava Doblas Joaquin , Cusinato Maria , Gabrielli Claudia , Negri Arianna , Righetto Elena , Moretti Carlo

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

hrp0098p2-373 | Late Breaking | ESPE2024

Screen time of children under five years old: repercussions on the habits and parents positioning.

Machado Pinto Renata , Victória Miranda Borges Bárbara , Soares Domingos de Sousa Isabella , da Silva Morais Lorena

Introduction: Excessive exposure of children to electronic devices is related to an increased risk for diabetes and obesity and greater chance of developing visual and cognitive disorders.Objective: To understand the time spent with screens (cell phone, tablet, computer, and television) by children under 5 years old in Goiânia-Goiás-Brazil and analyze the consequent impacts of this habit and parental positio...

hrp0092p1-365 | GH and IGFs (2) | ESPE2019

De Novo Formation of Neutralizing IGF-I Antibodies During rhIGF-1 Treatment in a Girl with IGFALS Deficiency as Distinct Adverse Event Interfering with Growth Promotion

Mittnacht Janna , Breil Thomas , Choukair Daniela , Duffert Christin , Hwa Vivian , Rosenfeld Ron , Bettendorf Markus

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

hrp0092p3-151 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Follow-Up Study for a Boy with Floating–Harbor Syndrome Due to a de novo Novel Heterozygous SRCAP Mutation

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

hrp0084p2-470 | Growth | ESPE2015

Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Cavelier Patricia , Magret Agnes , Sabench Cristina , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

hrp0084p2-483 | Growth | ESPE2015

Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant’s Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Girardot Michael , Carrion Empar , Gehmis Radu , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

hrp0084fc12.2 | Obesity - Clinical | ESPE2015

Soluble CD163, A Circulating Marker of Macrophage Activation, Associates With a Less Favourable Metabolic Profile in Children

Carreras-Badosa Gemma , Prats-Puig Anna , Diaz-Roldan Ferran , Platero-Gutierrez Estibaliz , Martinez-Calcerrada Jose-Maria , Riera-Perez Elena , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

hrp0095rfc10.4 | GH and IGFs | ESPE2022

Recombinant PAPP-A2 induces sex-specific increases in body weight and length and changes in bone microstructure in adolescent mice with longitudinal growth reduction induced by Pappa2 deletion

del Mar Fernández-Arjona María , Rubio Leticia , López-Gambero Antonio , Rivera Patricia , Vargas Antonio , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

hrp0082p3-d2-898 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Marfan Neonatal Syndrome: a Case Report

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Royo Maria , Perez-Seoane Beatriz , de la Serna Maria , Raga Teresa , Barrios Ana , Garcia-Minaur Sixto

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...