hrp0092p1-399 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Pubertal Events, Reproductive and Growth Hormones and Predictive Factors in Healthy Girls with Transient Thelarche.

Soto Julio , Pereira Ana , Busch Alexander , Almstrup Kristian , Corvalan Camila , Juul Anders , Mericq Veronica

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...

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-p057 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Results of 22 Weeks of Burosumab Therapy in a Patient with Severe Bone Deformities due to XLH

Ruiz-Ocana Pablo , Roldan-Cano Virginia , Castellano-Mendoza Ana , Salazar-Oliva Patricia , Lechuga-Sancho Alfonso

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

hrp0089p2-p161 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alterations and Weight Status in Children at 8 Years: A Prospective Cohort Study

Riano-Galan Isolina , Fernandez-Somoano Ana , Rodriguez-Dehli Cristina , Venta Obaya Rafael , Tardon Adonina

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...

hrp0089p2-p168 | Fat, Metabolism and Obesity P2 | ESPE2018

Weight Loss Outcomes in Two-Year Multidisciplinary Lifestyle Intervention Program Involving Obese Children and their Parents

Krnic Nevena , Uoic Anita Spehar , Bogdanic Ana , Kubat Katja Dumic , Pavic Eva , Putarek Natasa Rojnic

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

hrp0089p2-p197 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

An unusual cause of neonatal hyperglycemia – case report

Leite Ana Luisa , Pereira Isabel Ayres , Matos Joana , Campos Rosa Armenia , Santos Helena

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

hrp0089p3-p239 | Growth & Syndromes P3 | ESPE2018

Pharmacoeconomic and Adherence Analysis in Growth Hormone According to Galenic Presentation: In Vivo Study vs In Vitro

Diez-Lopez Ignacio , Sarasua Ainhoa , Lorente Isabel , Minguez Ana Cristinaa , Martinez Carlos

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

hrp0089p3-p312 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Premature Thelarche Followed by Acute Lymphoblastic Leukemia in a 1.5 Year Old Girl

Krstevska-Konstantinova Marina , Stamatova Ana , Kuzevska-Maneva Konstandina , Kocheva Svetlana , Conevska Biljana , Martinova Kata , Jovanovska Aleksandra

Introduction: Premature thelarche is considered a benign condition of breast development in prepubertal girls. It usually resolves after a certain period of time.Materials and methods: A 1.5 year old girl was referred to the pediatric Endocrinology department due to breast development which appeared two months prior to the visit.Results: Upon clinical examination the patient had Tanner breast stage M2-3 bilaterally, but otherwise a...

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...

hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...