hrp0082p2-d1-585 | Thyroid | ESPE2014

Subclinical Hypothyroidism is Associated with Low IGF1 Levels and Decreased Growth Velocity

Bellini Helena , Maciel Lea , Custodio Rodrigo , Milani Soraia , Paula Mariana , Antonini Sonir , Liberatore Raphael , Martinelli Carlos

Background: Subclinical hypothyroidism (SH) is defined as normal tyrosine levels in the presence of TSH concentrations between 5 and 10 mU/ml. The impact of SH on IGF system and growth of infants remains unknown.Objective and hypotheses: To evaluate IGF1, IGFBP3 levels and growth velocity (GV) of infants with SH.Method: 98 children up to 36 months of age, recalled due to a TSH >5 mU/ml in the neonatal screening test, were divid...

hrp0084p2-480 | Growth | ESPE2015

In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children

Martucci Lucia , Scaglia Paula , Karabatas Liliana , Rey Rodolfo , Domene Horacio , Domene Sabina , Jasper Hector

Background: ALS deficient (ALS-D) patients present severe IGFI and IGFBP3 deficiencies and variable degree of growth retardation. Heterozygous carriers for IGFALS variants, ALS-D relatives or a subset of ISS children, have levels of IGFI, IGFBP3 and ALS intermediate between ALS-D and wildtype (WT) subjects. This supports that IGFALS gene variants may affect ALS synthesis, secretion and/or function and could be responsible for the observed phenotype.<p cla...

hrp0084p3-1030 | Growth | ESPE2015

Sitting Height/Height Ratio: An Indicator for Genetic Study of the SHOX Gene in Children with Disharmonic Short Stature – An In-House Analysis

Yeste Diego , Dominguez Mildred , Campos Ariadna , Clemente Maria , Fernandez Paula , Plaja Alberto , Carrascosa Antonio

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

hrp0084p3-1041 | Growth | ESPE2015

Patient with Classic Phenotype of Hypochondroplasia and Deletion of the Gene SHOX

Dominguez Mildred , Amoretti Sonia , Ropero Esther , Campos Ariadna , Clemente Maria , Yeste Diego , Fernandez Paula

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

hrp0094fc9.4 | Growth Hormone and IGFs | ESPE2021

Optimising adherence using a connected injection device can improve growth outcomes: Evidence from real-world data on 11 million injections in 20,000 patients with growth disorders

Koledova Ekaterina , Bagha Merat , Arnaud Lilian , Piras Francesco , van Dommelen Paula ,

Background: For early identification of patients requiring adherence support, objective, real-time adherence data are needed. The easypod™ electromechanical injection device, in combination with the easypod™ connect ecosystem, electronically records and transmits, in real time, accurate records of the date, time and dose injected for patients receiving recombinant human growth hormone (r-hGH) to treat growth disorders. Healthcare professionals can us...

hrp0094p2-250 | Growth hormone and IGFs | ESPE2021

Patterns of suboptimal adherence to growth hormone treatment in children living in Italy

Centonze Chiara , van Dommelen Paula , Tornicasa Vincenzo , Koledova Ekaterina , Loche Sandro ,

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

hrp0097p1-239 | Diabetes and Insulin | ESPE2023

Epidemiology of Type 1 Diabetes among children under 15 years of age in Navarre (Northern Spain) between 2012-2022

J. Chueca Maria , Berrade Sara , Andres Carlos , Elcano Leire , Bello Paula , Burillo Elisabet

The incidence of TIDM varies greatly between different countries and regions. In Navarre, located in the north of Spain, at the western end of the Pyrenees, there has been a clear increase in the incidence of TIDM, from 13,5 cases per 100000 in the decade 1990-2000 to 20,1 cases per 100000 between 2006-2011. We wonder if this upward trend has continued in recent years. Our hospital is a reference center for Pediatric Endocrinology in Navarre.Obje...

hrp0097p1-102 | GH and IGFs | ESPE2023

Assessment of clinical pediatric perception of short stature in childhood and challenges to treat with Growth Hormone in Brazil: A exploratory evaluation of a developing country daily practice.

Barquero Paula , Aranha Pedro , Souza Leonardo , Careli Guilherme , Veçoso Marcos , Freire Daniel , Sato Cleber

Background: Concerns about a child's growth are one of the most common topics parents express during pediatric visits and are a leading cause for referral to a pediatric endocrinologist. For the general pediatric, when short stature is diagnosed, its clinical management remains a challenge.Objective: The aim of the study was to approach and understand the perception from the general pediatrician about short stature,...

hrp0097p1-288 | GH and IGFs | ESPE2023

The Growzen™ buddy smartphone application shows positive findings on adherence in Argentinian patients receiving growth hormone therapy for growth disorders

van Dommelen Paula , Arnaud Lilian , Assefi Aria , Lourdes Crespo Maria , Koledova Ekaterina

Background: Digital health solutions, such as the Growzen™ buddy smartphone application (app), can facilitate adherence to recombinant human growth hormone (r-hGH) treatment for patients with growth disorders. The app alerts patients when it’s time for an injection and allows patients and their caregivers to self-monitor growth, to build a routine and improve adherence. The app also contains educational resources to empower patients to be active in...

hrp0098p1-153 | GH and IGFs 2 | ESPE2024

Enhancing growth hormone treatment adherence in Argentina: A patient support programme approach

Reza Assefi Aria , Lourdes Crespo Maria , Chiarpenello Javier , van Dommelen Paula , Debicki Matías , Koledova Ekaterina

Background: Numerous studies have highlighted the importance of measuring and achieving optimal adherence to growth hormone treatment in patients with growth disorders. However, there is still a paucity of research on how treatment adherence can be improved in patients with suboptimal adherence.Aim: To classify the causes of suboptimal adherence and collaborate with patients and caregivers to improve adherence.<p cla...