ESPE Abstracts

Introduction: Growth Hormone Deficiency (GHD) with concomitant IGF1 resistance presents a complex diagnostic challenge, often featuring a constellation of growth, developmental, and neurologic findings. This case report presents a 6-year-old female with short stature, speech delay, and an abnormal genetic microarray indicative of IGF1 resistance, contributing to a unique clinical presentation.Case Presentation: I.N., a 6...

Background: Growth patterns in early childhood have profound implications for long-term health outcomes. This study aim ed to compare the growth trajectories of Small for Gestational Age (SGA) and Appropriate for Gestational Age (AGA) preterm infants over the first 60 months of life.Methods: A longitudinal analysis of Z-scores for weight-for-age (WAZ), length-for-age (LAZ), and weight-for-length (WLZ) was conducted on pr...

Background: Small for Gestational Age (SGA) infants, characterized by a birth weight below the 10th percentile for their gestational age, are susceptible to growth challenges. This longitudinal study investigates the postnatal growth of 10 SGA infants with birth weights under 1.5 kg, tracking their Weight-for-Age Z-score (WAZ), Length-for-Age Z-score (LAZ), and Weight-for-Length Z-score (WLZ) for five years.Methods: This...

Background: Growth monitoring of Appropriate for Gestational Age (AGA) preterm infants is critical for the assessment of postnatal developmental progress and health outcomes. This study aims to delineate the postnatal growth patterns of AGA preterm infants with birth weights less than 1.5 kilograms, using Z-scores for length-for-age (LAZ), weight-for-age (WAZ), weight-for-length (WLZ), and head circumference-for-age (HCZ) over the first 60 months of life.<...

Background: The growth and development of human tissues are critically regulated by the Insulin-like Growth Factor 1 Receptor (IGF1R) and its ligand IGF-1. Mutations in the IGF1R gene and less frequently in the IGF1 gene are associated with a heterogeneous group of growth disorders, manifesting as intrauterine and postnatal growth retardation.Literature Review: In this review, a total of 47 papers were analyzed, providin...

Background: The growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis is central to growth and metabolism. Growth hormone deficiency (GHD) in children can lead to metabolic disturbances and an increased risk of hypoglycemia. However, the response of blood glucose levels to glucagon in the presence of GHD compared to children with idiopathic short stature (ISS) is not well understood. This study aims to elucidate the glucose response to glucagon in thes...

Introduction: Growth Hormone Deficiency (GHD) in early childhood is a significant concern due to its impact on physical development. This retrospective study investigates the early growth patterns of children diagnosed with GHD during early childhood (average diagnosis age 5.2 years &pm; 1.1 years) to understand the progression of growth deviations in this population.Patients and Methods: Our study involved a retrospecti...

Introduction: The PAPPA2 gene plays a crucial role in growth regulation through its interaction with the insulin-like growth factor (IGF) system. Mutations in this gene can lead to disrupted growth patterns. This case report describes the clinical course of a Yemeni girl with a pathogenic PAPPA2 variant, characterized by high IGF-1 levels and affected linear growth and weight gain.Case Presentation: A 5-year-old girl of ...

Background: This study aim ed to compare the response to growth hormone (GH) therapy according to the presence of GH deficiency (GHD) in short-stature children born small for gestational age (SGA) in Korea and to present appropriate GH dose criteria.Methods: We evaluated 27 children born SGA with short stature and GHD (GHD group) and 23 without GHD (non-GHD group) registered in the LG Growth Study. Growth responses and c...

Aim of the study: To evaluate the clinical characteristics and treatment efficacy of patients with severe primary IGF-1 deficiency (PSIGFD) using a recombinant IGF-1 (rhIGF-1).Objectives of the study: To examine the clinical characteristics of patients with PSIGFD before starting treatment with a rIGF-1. To assess the height changes in patients with PSIGFD, before and after treatment with a rhIGF-1. To analyze the clinic...

COVID-19 is a worldwide pandemic caused by SARS-CoV-2, to which adults are usually more susceptible than children. Growth hormone (GH) levels differ between children and adults and decrease with age. There is bidirectional crosstalk between the GH/insulin-like growth factor-1 (IGF-1) pathway and the immune system that plays a significant role in SARS-CoV-2 infection. We evaluated the association between somatotropin treatment (GH replacement therapy) and the risk for SARS-CoV-...

Introduction: Currently, there is no diagnostic gold standard for growth hormone deficiency (GHD). The diagnosis of GHD is based on the current consensus guidelines, which state that an inadequate GH level of 7 ng/mL during two growth hormone stimulation tests (GHSTs) is indicative of GHD. The primary objectives of this study were to assess the sensitivity and specificity of low IGF-1 levels in combination with a single insulin tolerance test (ITT) for diagnos...

Background: The first Long-Acting Growth Hormone (LAGH) therapy, Somatrogon, has been available in Italy since March 2023 for children with growth hormone deficiency (GHD) older than 3 years, offering a convenient way of administering the treatment once weekly instead of once daily. Clinical trials have demonstrated the efficacy and safety of LAGH treatment in children with GHD. We aim ed to evaluate the real-world experience of using Somatrogon at a tertiary ...

Background: Recombinant human growth hormone (r-hGH) therapy is an effective treatment strategy for children experiencing growth disorders. However, poor adherence to long-term r-hGH therapy can lead to suboptimal catch-up growth. Digital health solutions, such as easypod® connect ecosystem, can facilitate adherence to r-hGH therapy in these patients.Aim: To investigate the adherence to r-hGH therapy administered via...

Pediatric growth hormone deficiency (pGHD) is a rare disorder characterized by inadequate growth hormone secretion. Recombinant human growth hormone (rhGH) is the current standard of care; however, daily injections may represent a burden to patients and caregivers, affecting patients’ health-related quality of life (HRQoL). This study evaluated the HRQoL of Greek patients receiving daily rhGH, and the burden of patients and caregivers. This cross-sectional study enrolled...

A 15y old girl presented with severe hypoglycaemic symptoms in combination with low blood glucose levels (<60 mg/dl). She had symptoms for over 1 year in combination with reduced activity, development of oligomenorrhoea after 2 years of normal cycles, increased fluid intake. Continuous sc. glucose measurement revealed constantly low or reduced glucose levels apart from a few increases after meals. Metabolic laboratory testing was normal apart from a single diminished GH lev...

Different substances are used to confirm/deny growth hormone (GH) deficiency. One of them is Glucagon. The exact mechanism of glucagon's direct stimulation of growth hormone secretion is not known, its hypoglycemic effect and late effect against glucagon are used during the test. Thus, since glucagon is a counterinsular hormone, it raises blood sugar, correspondingly, the amount of insulin in the blood increases, and increased insulin, in turn, causes hypoglycemia. Hypogl...

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

Introduction: Extrauterine growth retardation is a common characteristic among children born at very low birth weight (VLBW). Over time, recombinant human growth hormone (rhGH) has been used in this group based on indications for children born small for gestational age (SGA). However, this group represents an extreme phenotype to the majority of children born SGA, and data on the outcomes of this therapy in this group are limited.<strong...

Objectives: The Kabi/Pfizer International Growth Study (KIGS) was the largest and longest running international database of pediatric patients receiving recombinant human growth hormone (rhGH). The objective of the current analysis is to describe the dosage of rhGH at enrolment into KIGS according to diagnosis and geographical region.Methods: Between 1987-2012, 83,803 pediatric patients were enrolled into KIGS if they re...

Introduction and Purpose: STAT3 gain-of-function (GOF) syndrome is a rare monogenic autosomal dominant disease, caused by activating mutations in the STAT3 gene encoding the STAT3 protein, which is involved in the signal transduction pathway. Disruption of STAT3 structure leads to an early-onset multi-organ disease, characterized by lymphoproliferation, autoimmune cytopenias and growth retardation. Treatment includes immunosuppression, immunotherapy and alloge...

Background: Novo Nordisk’s long-acting growth hormone (LAGH) is approved by EMA for treating growth hormone deficiency (GHD) in children 3 years and older. The LAGH connected system includes the innovative add-on Mallya connectivity cap (manufactured by BIOCORP, a Novo Nordisk Company), which connects to the pen injector, detects the dose and dose time, and sends data to mobile application via Bluetooth. This marks the first LAGH connected device in Slov...