ESPE Abstracts

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

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 ...

Background: A rapid weight gain during infancy increases adult lean body mass, whereas weight gain during adiposity rebound at age 4-7 years results in increased adult fat mass and an increased risk of the metabolic syndrome and T2D. To understand the impact of age of obesity onset on growth, we classified non-syndromic childhood overweight into an early onset (EO, age 0-3) and a late onset (LO, age 3-7) group and characterized the growth patterns of the two.<...

Context: Growth analyses have traditionally been done by either non-structural descriptive statistics or by fitting models. While we usually describe height and weight separately, we assume reciprocity of weight and height on each other. We utilize ML to predict ages 7–18 y height based on height and weight data up to age 6y.Methods: After pre-processing the height and weight, primary and secondary features (height SDS, BMI, growth velocity) of 1596...

Introduction: Until recently, bariatric surgery (BS) has been the only option for clinically meaningful weight reduction for adolescents and youth with extreme obesity. Low participation rate in follow-up examinations and low supplement intake after BS in adolescents has been described in literature (PMID: 24048144, 25078533). We developed a structured pre- and post-bariatric surgery program in order to improve follow-up rate and supplement intake in adolescen...