ESPE Abstracts

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

Background: Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) are novel regulators of the GH-IGF axis, modulating IGF bioavailability through control of cleavage of IGFBPs and release of IGF from the ternary complex. Changes in the peripheral IGF system, including low IGF concentrations independently of GH secretion, have been reported in scenarios of malnutrition such as anorexia nervosa (AN). The role of pappalysins and stanniocalcins in the pa...

Aim: to evaluate the frequency and predictors of short stature in preterm infants born small for gestational age (SGA), by the age of 5 years. Materials and Methods. We examined 100 premature babies (gestational age of 22-31 weeks – 18, 32-36 weeks – 82), born SGA with the tables Fenton T. R. et al. (2013). Protocol included an assessment of anthropometric indicators and IGF-1 levels in the blood at birth, at the ages of 1 and 5 years. The odds ratio...

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&#...

Celiac disease (CD) is an intestinal chronic inflammatory and autoimmune disease that develops as a result of interplay between genetic, immunologic, and environmental factors. Many patients, who are referred for evaluation for short stature, show initially no identifiable abnormalities and labeled as having idiopathic short stature (ISS). Children with growth hormone deficiency may show poor response to growth hormone (GH) replacement therapy. In both conditions, this may be ...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth delay. The diagnostic criteria include age- and sex-dependent low basal IGF1 concentration (<2.5th percentile), height SDS < -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: 1) Report the growth pattern and pubertal status 2) Identify the molecula...

Objective: The clinical, laboratory and prognostic findings of the patients diagnosed with Kowarski Syndrome (biologically inactive growth hormone) were evaluated between February 2009 and February 2019 in order to contribute to literature.Materals and Methods: 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 97 cases continued to work. 92 cases at least one year, 62 cases...

Background/aims: Primary IGF1 deficiency (IGFD)’ is defined by low levels of IGF1 without a concomitant impairment in GH secretion in the absence of secondary cause. The aims of this study were to evaluate the prevalence of non-GH deficient IGFD in prepubertal children with isolated short stature (SS) and to describe their response to GH therapy.Methods: This retrospective study included all children with isolated S...

In ISS is a condition with a height is >2SD below the corresponding mean for age, sex, and population. Thyroid abnormalities reported during GH therapy in GH deficient (GHD) children but not well studied in ISS children on GH therapy.Aim: To investigate effects of GH therapy on TF in a group of euthyroid children with ISS in comparison with ISS group not receiving GH therapy and GHD group on GH therapy.Material...

Background: Poor adherence to recombinant human growth hormone (r-hGH) treatment presents a significant barrier to achieving optimal growth outcomes. It is important to identify and address the treatment adherence-related needs of children prescribed r-hGH, and develop new approaches to improve adherence. In this study, we aimed to measure the impact of the TuiTek patient support programme, a multi-component personalised service intervention, on caregivers&#14...

Acid-labile subunit (ALS) is a glycoprotein, which is produced in the liver in response to growth hormone (GH). The main role of ALS is to form a complex with insulin-like growth factor I (IGF-I) and IGF binding protein-3 (IGFBP-3) in order to extend their circulating half-life and thus support the action of GH. Although the mechanism and the consequences of ALS deficiency are well studied, ALS-deficient patients are still of research interest because of the unclear incidence ...

Serum levels of insulin-like growth factor-1(IGF-1) are used universally for monitoring growth hormone (GH) therapy in patients with GH deficiency (GHD). However, the serum levels of IGF-1 are variable, therefore in the last years the serum levels of IGF binding protein-3 (IGFBP-3) and the molar ratio IGF-1/IGFBP-3 were introduced as more effective and stable parameters evaluating the safety and efficacy of GH treatment. Many studies present reference values of IGF-1, IGFBP-3 ...

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

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...

Introduction: Mid-parental height (MPH) is a useful tool in the prediction of final adult height in normal children as well as those on growth hormone (GH) therapy. Aim of the study to evaluate the growth response to GH therapy in GHD children in relation to their MPH.Methods: This retrospective study included 22 short prepubertal children with GHD (peak GH<10 μg/l). They were followed in the Endocrine clinic be...

Bone age (BA) continues to be a valuable tool in assessing children’s growth potential. Children with normal variant short stature can be subdivided into idiopathic short stature (ISS) (with no delay in BA versus chronological age (CA) and constitutional delay (CDG) (with delayed BA versus CA. The response of these two groups to GH therapy remains controversial.Aim, patients, and methods: We studied linear growth, weight gain, skeletal maturation, a...

Introduction: Children with idiopathic short stature have linear growth impairment despite normal or even high levels of GH. In some of these children IGFI level is low (NGH + Low IGFI (IGFSDS<-1.5). It was observed that some children with GHD (Peak GH < 7 ng/dl after provocation) have normal IGFI levels (GHD +Normal IGFI). The linear growth of these two groups at presentation and their response to GH therapy was not studied well.<p class="abstext"...

In normal children, mid parental height (MPH) is a useful tool in assessing children’s growth and in the prediction of their final adult height. However, this may not be true for short children, especially those with height SD (HtSDS) > - 1SDS compared to their mid-parental height SDS (MPHtSDS). The difference may indicate underlying pathology.Aim: To assess growth response (change in HtSDS) to GH therapy in short prepubertal ch...

Background/Aim: Although there are many well-known components that affect the growth response to recombinant growth hormone (rGH), its effect on total height gain is still not fully predictable. A limited number of studies have been reported revealing up-to-date data on the relationship between immunogenicity and growth-promoting effects of rGH. The study aimed to examine the antibody formation against rGH and its consequences on growth-promoting effect in chi...

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

Introduction: Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. However, some children ...

The aim of this study was to investigate the clinical and laboratory features of patients who received recombinant human growth hormone (rhGH) treatment and to investigate the factors that determine the response to rhGH treatment. The clinical features of children treated at least one year with rhGH were retrospectively analyzed. Patients were grouped according to diagnosis; isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), Turner s...

Introduction: Currently, the incidence of diabetes in children is increasing and may coexist with growth hormone deficiency. In diabetic patients, there are many mechanisms which disrupt the growth process and affect the GH/IGF-1 axis. However, with properly controlled diabetes, patients achieve normal height and should be diagnosed for causes of short stature other than diabetes. There are few reports on the safety and effects of the use of recombinant human ...

Background: Growth hormone deficiency (GHD) is defined as a total or partial deficiency in the secretion of growth hormone (GH) by the somatotropic cells of the anterior pituitary. The exact prevalence of this condition is unknown in Algeria. In Europe and USA, it is estimated between 1/4000 and 1/10000. This variation is explained by clinical polymorphism, the limits of pharmacological stimulation tests for GH stimulation, problems in interpreting the diagnos...

Introduction: Growth hormone (GH) therapy has revolutionized the management of patients with short stature. Its common use was first limited to GH deficient children, but now it has been widnened to various other clinical conditions.The aim of our study is to compare the response to GH therapy in patients with GH deficiency (GHD), with those with Turner syndrome and patients small-for-gestational age (SGA).Materials and Methods: We condu...

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...