hrp0089p2-p198 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Neonatal Hypocalcemia Due to Maternal Hypovitaminosis D: A Cohort of Children in a Region of Northern Spain

Zuber Maria Laura Bertholt , Martin Concepcion Freijo , Arias Pilar Gortazar , Fernandez Sonia Vilanova , Santos Ana Belen Perez , Amunarriz Maria Garmendia , Revuelta Inmaculada Palenzuela

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...

hrp0084p3-1041 | Growth | ESPE2015

Patient with Classic Phenotype of Hypochondroplasia and Deletion of the Gene SHOX

Dominguez Mildred , Amoretti Sonia , Ropero Esther , Campos Ariadna , Clemente Maria , Yeste Diego , Fernandez Paula

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

hrp0082p3-d3-725 | Diabetes (2) | ESPE2014

Differences in Pubertal Development and Anthropometry Between Normal Population and Type 1 Diabetic Child at Debut in Spain

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Sanchez-Antonio Sonia , Lorente-Blazquez Isabel

Background: The deterioration caused DMtipo1 anthropometric and pubertal development. With intensive treatment, improved HbA1c and less microvascular complications should be similar to normal population.Objective: To study the pubertal development in our population with DM1 and final somatometric variables reached in relation to the normal population.Material and methods: Retrospective study of DM1A debut from diagnosis to final he...

hrp0084p3-932 | GH &amp; IGF | ESPE2015

Modification of Cardiovascular Risk Factors in Children Treated with GH

Llop Maria Escola , Gelonch Raquel Monne , Cabases Montse Olona , Navarro Angels Vilanova , Canhoto Diana Sofia de Melo , Yuste Encarnacion Torruz

Background: The administration of GH on paediatric patients to optimize the longitudinal growth, can modify some cardiovascular risk factors due to their effects on metabolism.Objective and hypotheses: Evaluation of the effect of GH on total cholesterol blood levels (TCBL), fasting blood glucose concentration (FBGC), blood pressure (BP) and BMI, comparing these variables before starting treatment, after a year and at the end. And it also assesses whether...

hrp0089fc5.3 | Thyroid | ESPE2018

Computational Analysis of the Ligand Binding Domain of the Thyroid Hormone Receptor for the Rational Design of an Efficient Protein-Based Biosensor for the Detection of Thyroid Hormone Disrupting Chemicals

Verma Sonia , Pandey Amit V

Background: Thyroid hormone disrupting chemicals (THDCs) which are present in the environment, food and everyday consumer products, interfere with thyroid hormone signaling, possibly by interacting with thyroid hormone receptors (THRs). This alters the thyroid hormone homeostasis and affects various functions regulated by the thyroid hormone e.g. macronutrient metabolism, cardiovascular function, and normal brain development. Therefore, there is a necessity for detection and m...

hrp0089rfc4.2 | GH &amp; IGFs | ESPE2018

Data Mining and Computational Analysis of Human Growth Hormone Gene (GH1) Sequence in Normal Population to Identify Potential Variants with Disease-Causing Effects

Verma Sonia , Pandey Amit V

Background: Mutations in GH1 gene cause isolated growth hormone deficiency. Several disease-causing mutations from patients with IGHD have been reported. These mutations have been shown to (a) produce shorter isoforms of GH that does not bind to growth hormone receptor, (b) cause diminished secretion of GH or (c) result in misfolded GH protein. Large sequencing studies from the non-clinical population show several hundred genetic variations in GH1 gene. Role of common polymorp...

hrp0082p3-d3-724 | Diabetes (2) | ESPE2014

Prevalence of Impaired Glucose Tolerance and Insulin Resistance in a Sample of the 6- to 16-Year-Old Overweight or Obese Pediatric Population

Saffari Fatemeh , Vandaei Mahmood , Oveisi Sonia , Esmailzadehha Neda

Background: Prevalence of obesity and its complications including type 2 diabetes mellitus, impaired glucose tolerance and insulin resistance have been increased among children and adolescents during recent decades.Objective and hypotheses: The aim of this study was to determine the prevalence of impaired glucose tolerance and insulin resistance among overweight or obese children and adolescents.Method: This cross sectional study w...

hrp0084p2-225 | Bone | ESPE2015

Early Detection of Increased Bone Turnover among Children and Adolescents with Type 1 Diabetes Mellitus

Wahab Amina Abdel , Sharkawy Sonia El , Attia Fadia , Amin Mona

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

hrp0095p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Somatostin analogs in a 15 year old boy with gigantism

Hernandez Claudia , Rodriguez Saa Magdalena , Fernandez Ivana , Figurelli Silvina , Daly Adrian , Guitelman Mirta

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

hrp0084p2-167 | Adrenals | ESPE2015

Hyponatraemia Secondary to Exudative Eczema

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...