hrp0094p2-480 | Thyroid | ESPE2021

TBG deficiency and Central Congenital Hypothyroidism (CCH): Our experience in neonatal screening with TSH and T4

Chueca Maria J. , Grau Gema , Bertholt Laura , Artola Elena , Fernández Concepción , Sarasua Ainhoa , Rodriguez Amaia , Vela Amaia , Belza Amaia , Berrade Sara , Dura Teodoro , Alonso Pablo , Puges Laura , Diez Ignacio , Espada Mercedes , Ederra Maria , Ascunce Nieves , Porras Begoña , Rica Itxaso

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

hrp0092p2-74 | Diabetes and Insulin | ESPE2019

Impact of the Flash Glucose Monitoring System on Children with Type 1 Diabetes After the First Year of Using in Systematic Way

Freijo Martin Concepcion , Bertholt Zuber Laura , Palenzuela Inmaculada

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

hrp0089p3-p228 | Growth & Syndromes P3 | ESPE2018

Children Born Small for Gestational Age: Catch-up Growth During the First Four Years of Life

Freijo Martin Concepcion , Bertholt Zuber Laura , Palenzuela Revuelta Inmaculada

Children born small for gestational age (SGA) have a weight and/or heighth less than −2SD from the mean, the realization of an adequate catch-up or not during the first years is important and the growth assessment is required.Objective: Analyze Catch-up on Growth of 52 SGA children during the first 4 years of life, compared 23 children who performed it properly (AC) with 19 who did not recover (NAC).Methods: Retrospective stu...

hrp0082p2-d2-281 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0086p2-p68 | Adrenal P2 | ESPE2016

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Freijo Martin Concepcion , Laura Bertholt Zuber Maria , De la Rubia Fernandez Luis , Naranjo Gonzalez Cristina

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

hrp0082p3-d3-795 | Fat Metabolism & Obesity (2) | ESPE2014

Response to Treatment in a Group of Patients with Childhood Obesity

Martin Concepcion Freijo , Zuber Maria Laura Bertholt , Revuelta Inmaculada Palenzuela , Rebollo Ana Rebollo

Background: The childhood obesity is a common reason for consultation, due to the increase of this disease in our society, the instruction of the patient and the family consumed many resources.Objective: Study the obese children who attended during the year 2012 valuing the results at 4 and 8 months.Method: 37 obese children(SDS >2), valuing sex, age, family history (FH), anthropometrics measures at birth and the time of the st...

hrp0084p3-1023 | Growth | ESPE2015

Alterations of SHOX and Its Enhancers as a Cause of Short Stature: Evolution of Our Cases

Zuber Maria Laura Bertholt , Tomas Cristina Luzuriaga , Heath Karen , Martin Concepcion Freijo , Gonzalez Cristina Naranjo

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

hrp0092p2-102 | Diabetes and Insulin | ESPE2019

Flash Glucose Monitoring System Versus Blood Sugar Test Strips: Cost Comparison and Satisfaction During a Year in a Northern Spain Region

Bertholt Zuber Maria Laura , Freijo Martin Concepción , Naranjo Gonzalez Cristina , Palenzuela Revuelta Inmaculada , Mariscal Sara Pozas

Background: The flash glucose monitoring system (FGMS) has been a great advance in quality of life for patients diagnosed with type 1 diabetes (T1D). However, it is a more expensive method.Objectives: To describe the characteristics of the pediatric population (<18 years) diagnosed with T1D using FGMS, during one year in our community. To assess the degree of satisfaction and possible inconveniences. To evaluate the ...

hrp0086p2-p275 | Diabetes P2 | ESPE2016

Pancreatic Reserve and Metabolic Control of Type 1 Diabetes in a Cohort of Spanish Children and Adolescent

Laura Bertholt Zuber Maria , Cristina Luzuriaga Tomas Maria , Andres de Llano Jesus , Freijo Martin Concepcion , Naranjo Gonzalez Cristina

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

hrp0095p1-401 | Adrenals and HPA Axis | ESPE2022

Increased Basal Levels of 17-Hydroxyprogesterone In The Covid ERA: Must We Change The Cut-Off Point To Request Acth Test?

Laura Bertholt Zuber M. , Alonso Rubio Pablo , Palenzuela Revuelta Inmaculada , Pozas Mariscal Sara , Lavín Gómez Bernardo , Teresa Garcia Unzueta M.

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...