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 ...

hrp0086fc10.3 | Perinatal Endocrinology | ESPE2016

Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) Therapy in Hyperinsulinaemic Hypoglycaemia (HH) and Understanding its Molecular Action via Somatostatin Receptors by Immunohistochemistry

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Guemes Maria , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...

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...

hrp0084p3-1039 | Growth | ESPE2015

Sotos Syndrome: Why is Better an Early Diagnosis?

Solis Maria Magdalena Hawkins , Gomez Maria Royo , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Pose Araceli Garcia , Diaz Alfonso Canete

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

hrp0095p1-227 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary Hyperparathyroidism caused by a Mutation of the Vitamin D Receptor Gene

de Beldjenna Liliana Mejia de Beldjenna L

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...