hrp0082p3-d1-705 | Diabetes | ESPE2014

Glycemic Control of Patients with Type 1 Diabetes Using Automated Bolus Calculator Glucometerr

Rojo Jaime Cruz , Lorenzo Lucia Garzon , del Pozo Jaime Sanchez , Gomez Ma Elena Gallego

Background: In the past years, new glucometers with integrated automated bolus calculator, are available in the market for patients whith type 1 diabetes (DM1) in multiple daily injections (MDI) therapy. The limited bibliography about the use of these meters in the pediatric population with DM1, suggests that it may have beneficial effects in terms of glycaemic control and improved quality of life.Objective and hypotheses: The use of a glucometer with an...

hrp0082p3-d3-838 | Growth (2) | ESPE2014

Analysis of the Effectiveness of Treatment with GH in a Tertiary Hospital in the Last 30 Years

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Gomez Ma Elena Gallego , Pozo Jaime Sanchez del

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

hrp0084p3-788 | DSD | ESPE2015

Persistent Müllerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Fernandez Jone Agirregoitia , del Pozo Cristina Martinez , Picard Jean-Yves , del Pozo Jaime Sanchez

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

hrp0084p3-1196 | Thyroid | ESPE2015

Hoffmann Syndrome in a Boy with Severe Acquired Primary Hypothyroidism

Lorenzo Lucia Garzon , Rojo Jaime Cruz , del Pozo Cristina Martinez , Enamorado Noemi Nunez , del Pozo Jaime Sanchez

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

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...

hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...