hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...

hrp0095t10 | Section | ESPE2022

Aromatase Inhibitor (anastrazole) vs placebo delays bone age maturation in prepubertal children with Silver Russell or Prader-Willi Syndrome and pathological adrenarche

Dufourg Marie-Noëlle , Diene Gwenaelle , Cachanado Marine , Vu-Hong Thuy-Ai , Berard Laurence , Rousseau Alexendra , Soussi Nora , Pinto Graziella , Rouleau Stéphanie , Bernoux Delphine , Chalard François , Ducou Le Pointe Hubert , Lamaziere Antonin , Tauber Maite , Netchine Irène

Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...

hrp0095p2-264 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.

Jardin-Millet Isabelle , Amouroux Cyril , Dufourg Marie-Noelle , Lambert Anne-Sophie , Bouvattier Claire , Parada-Bonte Fabienne , Reynaud Rachel , Demeinex Estelle , Courbiere Blandine , Albarel FrÉDÉRique , Netchine IrÈNe , Houang Muriel

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...

hrp0089p2-p065 | Diabetes & Insulin P2 | ESPE2018

Transient Neonatal Diabetes Mellitus due to not Described Mutation in ABCC8 Gene with Different Behaviour in Affected Family Members

Angeles Santos Mata Maria , Pilar Fernandez Viseras Irene , Torres Barea Isabel , Castano Gonzalez Luis

Neonatal diabetes (ND), classified as either permanent (PND) or transient (TND), occurs in 1/200,000 live births. In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases. The most frequent cause is mutation of the 6q24 gene accompanied by mutations in heterozygosis of ABCC8 gene. 80% of mutations in this gene are in novo, due to autosomal recessive inheritance. Such cases respond to treatment with sulfonylurea...

hrp0089p3-p102 | Diabetes & Insulin P3 | ESPE2018

When Type Mody Ii Diabetes Simulates Type I Diabetes

Viseras Irene Pilar Fernandez , Mata Maria Angeles Santos , Barea Isabel Torres , Gonzalez Luis Castano

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...

hrp0086p1-p133 | Bone & Mineral Metabolism P1 | ESPE2016

Treatment with Zoledronic Acid in Children with Duchenne Muscular Dystrophy

Viseras Irene Fernandez , Konstantoulaki Ele , Jungbluth Heinz , Wraige Elizabeth , Gowda Vasantha , Hulse Tony , Cheung Moira

Background: Paediatric Osteoporosis can be a devastating complication of Duchenne muscular dystrophy (DMD). Treatment with intravenous bisphosphonates such as pamidronate is currently the first treatment choice for paediatric osteoporosis of different etiologies.Objective and hypotheses: The aims of our study were i) to identify the proportion of boys with DMD with osteoporosis in our service and ii) to evaluate the side-effect profile of those treated w...

hrp0086p2-p285 | Diabetes P2 | ESPE2016

Permanent Neonatal Diabetes by Gene Mutation KCNJ11. Evolution and Treatment after Three Years with Sulphonylureas

Angeles Santos Mata Maria , Fernandez Viseras Irene , Torres Barea Isabel , Jose Macias Lopez Francisco , Catano Luis

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...

hrp0086p2-p510 | Fat Metabolism and Obesity P2 | ESPE2016

Nonalcoholic Fatty Liver Disease: Evolution after 1 year of Follow-Up with Different Therapies

Mata Maria Angeles Santos , Viseras Irene Fernandez , Ruiz Jose Pedro Novalbos

Background: Fatty liver disease is diagnosed increasingly in obese children, which pathophysiology remains unexplained. Risk factors as insulin resistance, evolution of steatosis and hypertriglyceridemia, should be taken into consideration in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into 2 groups: with steatosis ...

hrp0086p2-p524 | Fat Metabolism and Obesity P2 | ESPE2016

Non-Alcoholic Hepatic Steatosis in Obese Children and the Relationship with Insulin Resistance

Fernandez Viseras Irene , Angeles Santos Mata Maria , Jose Macias Lopez Francisco

Background: Hepatic steatosis is common in obese children. The pathophysiology remains unexplained but it is known that insulin resistance and hypertrilycerdemia are involved in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into two groups: (with steatosis and without steatosis) to assess the risk factors.<p class...

hrp0086p2-p942 | Thyroid P2 | ESPE2016

Euthyroid Hashimoto Thyroiditis in Children: Evolution Over Time

Karachaliou Feneli , Kafetzi Maria , Vlachopapadopoulou Elpis , Thomas Dimitris , Kaloumenou Irene , Fotinou Aspasia , Karavanaki Kyriaki , Michalakos Stefanos

Background: The natural evolution of euthyroid Hashimoto thyroiditis (HT) varies among children and treatment in children with HT and normal/mild elevated serum TSH is controversial.Objective and hypotheses: The aim was to study the natural course of HT in children and evaluate predictive factors of thyroid functionMethod: We evaluated data from 87 children retrospectively (63 girls, 24 boys), mean age 10.6±3.2yrs, with HT [an...