hrp0095p2-180 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: three case reports

Moscoso Joana , Cirurgião Filipa , Dias Joana , Laura Fitas Ana , Diamantino Catarina , Pina Rosa , Lopes Lurdes

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

hrp0092p3-306 | Late Breaking Abstracts | ESPE2019

Improvement of Metabolic Control in Children with Type1 Diabetes Using Continuous Glucose Monitoring Devices

Gil-Poch Estela , Roco-Rosa María , Javier Arroyo-Díez Francisco

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

hrp0089p2-p075 | Diabetes & Insulin P2 | ESPE2018

Type 5 Monogenic Diabetes: Reportof 7 Cases

Eduard Mogas , Rosa Pacheco , Diego Yeste , Ariadna Campos , Luis Castano , Maria Clemente

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

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...

hrp0089p2-p244 | Growth &amp; Syndromes P2 | ESPE2018

Familial Turner Syndrome: Case Report

Dacal Jimena Lopez , Villanueva Mercedes , Enacan Rosa , Brunetto Oscar , Figueroa Veronica

Introduction: Turner syndrome (TS) is one of the most common chromosomic disorders characterized by partial or complete lack of one of X chromosomes. It presents variable phenotypic spectrum. Isochromosome of long arm (iXq10) is the third most frequent karyotype and could be in mosaicism in 10-15% of TS. The phenotypic manifestation are similar than girls 45X. It is described a higher incidence of thyroid autoimmunity (even though is currently under discussion) and of diabetes...

hrp0086p1-p919 | Thyroid P1 | ESPE2016

Etiology and Severity of Congenital Hypothyroid Children Detected through Neonatal Screening: A Cut-off based Analysis

Vieites Ana , Enacan Rosa , Gotta Gabriela , Junco Marcelo , Ropelato Gabriela , Chiesa Ana

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

hrp0082p1-d1-242 | Thyroid | ESPE2014

Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?

Gallo Francesco , Conte Pietro , Alfano Rosa Maria , Bulfamante Gaetano , Moramarco Fulvio

Background: Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart, and CNS), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, an...

hrp0082p3-d3-749 | Diabetes (4) | ESPE2014

Hyperglycemia: MODY: a Diagnosis to Remember

Monteiro Ricardo , Fitas Ana Laura , Amado Marta , Pina Rosa , Lopes Lurdes

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

hrp0082p3-d2-829 | Growth (1) | ESPE2014

Cross-Sectional and Prospective Study of the Effects of GH Therapy on Metabolic Panel in Children with GH Deficiency

Ramistella Vincenzo , Wasniewska Malgorzata , Valenzise Mariella , Aversa Tommaso , Arasi Stefania , Velletri Maria Rosa , De Luca Filippo

Background: Numerous studies have shown that GH, in addition to promoting linear growth, exerts a key role in many metabolic processes. However, there are only few studies aiming at evaluating the metabolic panel of children with GH deficiency (GHD). The aims of the study were: to verify the presence of metabolic alterations in GHD children in comparison with age-matched controls and to check the possible effects of 2 year GH therapy on the metabolic parameters in GHD.<p c...

hrp0084p1-45 | Diabetes | ESPE2015

Immune/Inflammatory Profile in Children with Type 1 Diabetes Mellitus and Celiac Disease and/or Autoimmune Thyroiditis

Fattorusso Valentina , Galgani Mario , Mozzillo Enza , Santopaolo Marianna , Nugnes Rosa , Matarese Giuseppe , Franzese Adriana

Background: Most studies examined immune/inflammatory parameters in type 1 diabetes mellitus (T1D) showing discrepant results and not yield definitive conclusions. A study carried out by our group in 2013 compared meta-immunologic profiles of three groups: high-risk children, newly diagnosed children affected by T1D and controls.Objective and hypotheses: To compare metabolic profile in three groups: children affected by T1D and an additional autoimmune d...