hrp0097fc1.1 | Adrenals and HPA Axis | ESPE2023

Investigating intergenerational effects of glucocorticoids

Fisher Benjamin , Sandovici Ionel , Constância Miguel , Miska Eric

Background: Animal studies have reported that exposure to synthetic glucocorticoids (sGCs) may lead to inter- and transgenerational effects on offspring phenotype. However, many of these studies are poorly designed, do not account for possible non-epigenetic confounds, and cannot determine the mechanism(s) by which gamete epimutations are induced.Objectives: Firstly, to determine whether developmental exposure of mice to...

hrp0095p1-541 | Multisystem Endocrine Disorders | ESPE2022

Severe Systemic Pseudohypoaldosteronism Type 1: 10 years of evolution

Luísa Carvalho Ana , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

hrp0095p2-177 | Growth and Syndromes | ESPE2022

Effects of Somatropin treatment in different groups of patients with indication for replacement therapy: isolated growth hormone deficiency, small for gestational age, Turner syndrome and Prader-Willi syndrome

Afonso Nuno , Luísa Carvalho Ana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0089p3-p018 | Adrenals and HPA Axis P3 | ESPE2018

Adequate Interpretation of Cortisol Levels in Children

Chueca Maria J , Villarreal Maria , Andres Carlos , Berrade Sara , Dura Teodoro , Nova Luiz-Miguel , Rodriguez Pablo

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

hrp0089p2-p133 | Fat, Metabolism and Obesity P2 | ESPE2018

Tri-Ponderal Mass Index: A Good Anthropometric Index to Evaluate Adiposity in Children and Adolescents

Klunder Miguel Klunder , Peregrina Myrna Bravo , Gonzalez Desiree Lopez , Clark Patricia , Lora America Liliana Miranda

Background: The adiposity measurement by reliable methods such as dual X-ray absorptiometry (DXA) is not feasible in routine medical care and instead of this, the anthropometric methods are used. However, these methods could be inaccurate to estimate the body fat content. Additionally, in pediatric patients, some anthropometric indexes requires percentiles or Z-scores for their interpretation, like the body mass index (BMI) or the waist circumference (WC). Although anthropomet...

hrp0089p3-p362 | Thyroid P3 | ESPE2018

Graves’ Disease in a Pediatric Population: Results from the Last 17 Years at a Pediatric Endocrinology Unit

Carvalho Fabia , Paredes Silvia , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Introduction: GravesÂ’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

hrp0086fc10.5 | Perinatal Endocrinology | ESPE2016

Effects of Developmental Bisphenol A Exposure on Spermatozoal microRNA Expression

Fisher Benjamin , Sandovici Ionel , Braukmann Fabian , Frederiksen Hanne , Constancia Miguel , Miska Eric , Acerini Carlo

Background: Bisphenol A (BPA), a ubiquitous endocrine-disrupting chemical, has been shown to exert transgenerational effects on adiposity, metabolism, and reproductive outcomes in rodents, indicating epigenetic inheritance. Recent studies of other environmental insults (stress and high-fat diet) have demonstrated a mechanistic role for spermatozoal microRNAs in the transgenerational transmission of acquired paternal traits.Objective and hypotheses: To as...

hrp0086p1-p129 | Bone & Mineral Metabolism P1 | ESPE2016

Trabecular Bone Score in Children from Mexico City: Preliminary Report

Angel Guagnelli Miguel , Gomez-Diaz Rita , Ambrosi Regina , Winzenrieth Renaud , Clark Patricia

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

hrp0086p1-p482 | Fat Metabolism and Obesity P1 | ESPE2016

Changes in Urine and Plasma Metabolomics Profiles after a Lifestyle Intervention Program in Obese Prepubertal Children

Jesus Leal Witt Maria , Llobet Marina , Samino Sara , Rodriguez Miguel A. , Yanes Oscar , Ramon Marta , Lerin Carles

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving childrenÂ’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...