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...

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...

hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

hrp0094p2-438 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Congenital adrenal hyperplasia in detail: A multicentric and interdisciplinary study in minors with different sexual development

Ignacio Diez-Lopez , Nerea Gonzalez-Temprano , Villalon Flor , Larreina de la Fuente Leire , Cancela Vanesa , Nuñez Francisco Javier , Hernandez Jone Miren

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

hrp0098p2-231 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Pituitary hypoplasia and Growth hormone deficiency in A patient with Baraitser- Winter syndrome

De Brasi Davide , Piscopo Carmelo , Barba Livia , Scarano Elisabetta , Errico Martina , Cocchini Claudia , Novizio Roberto , Novizio Vincenzo , Priolo Manuela , Scavuzzo Francesco

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF; ORPHACODE 2995) is a multiple congenital anomaly syndrome characterized by distinct craniofacial features and intellectual disability. Affected individuals often present with pachygyria, predominantly in frontal regions, shoulder girdle muscle wasting, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability varies and correlates with the severity of brain malformations. ...

hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...