ESPE Abstracts

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Background: Numerous studies have shown that GH, in addition to promoting linear growth, exerts a key role in many metabolic processes. However, there are only few studies aiming at evaluating the metabolic panel of children with GH deficiency (GHD). The aims of the study were: to verify the presence of metabolic alterations in GHD children in comparison with age-matched controls and to check the possible effects of 2 year GH therapy on the metabolic parameters in GHD.<p c...

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

The easypod™ injection device allows automatic recording and transmission of adherence data from patients receiving recombinant human growth hormone (r-hGH; Saizen) to treat growth disorders. Through the easypod™ connect platform, healthcare professionals can access transmitted data and gain insights into adherence patterns. This analysis aimed to evaluate real-world adherence to r-hGH therapy administered via easypod™ at 1, 3, 6 12 and 24 months, plus overall d...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National C...

We evaluated growth parameters and endocrine disorders in relation to the quantity of liver iron (LIC) measured by the Ferriscan method and insulin-like growth factor 1 (IGF-I) level in a cohort of adolescents with sickle cell disease (SCD) (n=40) and beta thalassemia major (BTM) (n=52) receiving nearly the same protocol of transfusion and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl ...

Introduction: There is still controversy for priming with sex steroid before GH testing.Objective and hypotheses: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (HtSDS −2). They were divided randomly into two groups. Children in group 1 (n=50) were primed with premarin in girls and testosterone in boys and those in group 2 were not primed (n=42). All children were tested using stand...