hrp0089p3-p200 | GH & IGFs P3 | ESPE2018

Small for Gestational Age (SGA) Patients with Premature Treatment Discontinuation: Their Journey in French Real-life Settings

Salles Jean-Pierre , Coutant Regis , Leheup Bruno , Nicolino Marc , Hacques Evguenia , Villette Beatrice

Objective: Premature GH treatment discontinuation of SGA is usually linked to safety or ineffectiveness. However, this population is poorly addressed compared to those with final adult height (FAH). Authors investigated the journey of SGA prematurely discontinued Norditropin® treatment in a French real-life.Methods: Observational prospective ongoing study: 291 Norditropin®-treated SGA. Annual FU up to FAH. Descriptive anal...

hrp0089p3-p212 | GH & IGFs P3 | ESPE2018

Height Velocity and Height Gain in the First Year of GH Treatment: Predictive Factors of Good Statural Response in Small for Gestational Age (SGA) Patients

Coutant Regis , Leheup Bruno , Nicolino Marc , Salles Jean-Pierre , Hacques Evguenia , Villette Beatrice

Objective: Bang et al. showed that Δ height and growth velocity (GV) the first year of treatment could be predictive factors of statural response in SGA (n=54). Poor responders showed GV <1SDS (55%) and Δ height <0.5SDS (45%). Moreover, Ortego et al. seems to confirm the suitability interest of KIGS mathematical model in a retrospective SGA cohort (n=103) showing that the percentage of good responders in the first year varies betwee...

hrp0089p3-p205 | GH &amp; IGFs P3 | ESPE2018

Small for Gestational Age (SGA) Patients in Real Life French Clinical Practice: What is the Difference Between Good and Poor Responders to GH Treatment

Nicolino Marc , Coutant Regis , Leheup Bruno , Salles Jean-Pierre , Hacques Evguenia , Villette Beatice

Objective: Age and height at treatment start, target height, GH dose, and first year treatment response are among known criteria of GH deficiency (GHD) good responders (final adult height [FAH] >−2 standard deviation score [S.D.S.]) to GH treatment (GHT). The authors investigated whether the same criteria are applicable to SGA patients based on real-life ongoing French registry data.Methods: 291 SGA children treated with Norditro...

hrp0094p1-123 | Growth A | ESPE2021

Growth and nutrition improvement with recombinant growth hormone in prepubertal patients with Silver-Russell syndrome

Villemeur Raphaelle Billette de , Giabicani Eloise , Dubern Beatrice , Netchine Irene ,

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.Design: Retrospective anal...

hrp0082p3-d3-787 | Fat Metabolism &amp; 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...

hrp0089p3-p220 | Growth &amp; Syndromes P3 | ESPE2018

Effect of Sickle Cell Disease on Growth and Puberty

Omar Anjumanara , Abdallah Fatma , Mutai Beatrice

Background: Research has shown that some of the endocrine disorders in patients with sickle cell disease include delayed growth and pubertal development. No study has been done in Kenya to investigate whether this applies for the local children with sickle cell anaemia.Objective: To describe growth and pubertal development in children and adolescents with Sickle cell disease.Methodology: This was a cross-sectional descriptive study...

hrp0086p2-p169 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Rickets as Precocious Sign of Celiac Disease

Cristina Maggio Maria , Vergara Beatrice , Corsello Giovanni

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

hrp0095p1-303 | GH and IGFs | ESPE2022

Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report.

Righi Beatrice , Trimarchi Gabriele , De Fanti Alessandro , Garavelli Livia , Sartori Chiara , Elisabeth Maria

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...