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...

hrp0089p3-p407 | Diabetes & Insulin P3 | ESPE2018

Degludec Versus Glargine in Pediatric and Adolescent Patients with Type 1 Diabetes

Gil-Poch Estela , Javier Arroyo-Diez Francisco , Beato-Vibora Pilar I

Introduction: To optimal glycemic control without hypoglycemia must be the aim of insulin treatment for all patients with type 1 diabetes (T1DM). Despite the advantages of the basal-bolus insulin regimens with MDI, hypoglycemia presents a major barrier in achieving desirable blood glucose levels. Degludec is a new basal insulin analog with longer half-life and lower variability.Objetive: To investigate the differences between long-acting insulins glargin...

hrp0094p2-362 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypopituitarism: the role of genetics

Gil Poch Estela , Javier Arroyo Diez Francisco , Mendez Perez Pilar , Galan Gomez Enrique ,

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...

hrp0097p1-440 | Diabetes and Insulin | ESPE2023

Monogenic forms of neonatal diabetes: our casuistics and evolution

Ángeles Santos Mata María , Pacheco Carrillo Aitana , Ruiz Ocaña Pablo , Macías López Francisco

Neonatal diabetes (ND) occurs in 1/100,000-150,000 newborns with hyperglycemia in the first six months of life, requiring insulin treatment for at least two weeks, with no autoimmune basis. Two forms are described, transitory (TND) and permanent (PND). In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases.CASE 1: Newborn with sustained hyperglycemia since the third day of life, requiri...

hrp0097p2-28 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Hipothalamic syndrome in craniopharyngioma: pre and post-surgery

Coelho Isabel , Francisco Branco Caetano , Iraneta Amets , Conceição Carla , Lopes Lurdes , Galhardo Júlia

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

hrp0089p2-p370 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Persistent Müllerian Duct Syndrome in Twin Brothers Caused by a Novel Mutation in the AMHR2 Gene

Maele Karolien Van De , Rademaeker Marjan de , Gies Inge , Vanbesien Jesse , Klink Daniel , Boe Veerle De , Schepper Jean De

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

hrp0082p3-d3-787 | Fat Metabolism & Obesity (2) | ESPE2014

Obese Teenagers and Risk of Injuries During School Physical Activity

Lemma Francesco , Messini Beatrice

Background: Injuries occur frequently in the obese young population even if they need to practice physical activity. The greatest part of Italian adolescents plays sports only at school.Objective and hypotheses: The aim of the study was to investigate the relationship between overweight and obesity, and the risk of injuries in adolescents during school physical activity.Method: This is a retrospective cohort study utilizing the ele...

hrp0082fc4.1 | Growth | ESPE2014

Heterozygous IGF1R Mutations Represent a Frequent Finding in Patients with Pre- and/or Postnatal Proportional Undergrowth and Low, Normal or Supranormal IGF1

Campos-Barros Angel , Gomez-Nunez Ana , Gonzalez-Casado Isabel , Salamanca-Fresno Luis , Garcia-Minaur Sixto , Ros-Perez Purificacion , Borras-Perez Victoria , Audi Laura , Rosell-Andreo Jordi , de Sotto-Esteban Diego , Garcia-Cuartero Beatriz , Gonzalez-Vergaz Amparo , Cruz-Rojo Jaime , Garzon Lucia , Gallego-Gomez Elena

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...