ESPE Abstracts

Background: Hereditary syndromic endocrine tumours are associated with significant morbidity in the paediatric population. Advances in molecular genetics enable early cascade genetic testing with early initiation of tumour screening. Controversy exists around the start age and burdens arising from screening-related harms.Objective: To describe the efficiency of the screening program for paediatric patients with genetic r...

Introduction: The ACTH stimulation test is utilized to assess cortisol reserve and when non-classical congenital adrenal hyperplasia is suspected. Limited and conflicting data exist on the impact of the time of the day on cortisol response.Aim: To study the association between peak cortisol response to ACTH test and time of the day it was conducted and to study the clinical parameters affecting this response.<p class...

Introduction: Bone dysplasias are a group of disorders affecting the development and growth of bones and cartilage. These conditions can lead to various skeletal abnormalities, including short stature, deformities and problems with joint function. Skeletal dysplasias are generally caused by genetic mutations. There are over 400 different types of bone dysplasias, each with its specific set of symptoms and genetic causes. This study introduces three patient cas...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

Background/Aim: Parents wanting to predict adult height (AH) often resort to the old practice of doubling a boy’s height at age 2 years or a girl’s height at 18 months. We coined this the ’Grandma prediction’ (GMP1). It provides predictions with mean absolute error (MAE) 5.9 and 5.2, standard deviations of residuals (sdRES) 4.1 and 3.6, and Pearson correlation r=0.68 and 0.67 for boys and girls, respectively. The recent sophist...

Objectives: Somatrogon, a long-acting recombinant human growth hormone (GH) consisting of the amino acid sequence of human GH (hGH) and three copies of the carboxy-terminal peptide (CTP) of human chorionic gonadotropin, is approved by the EMA for treatment of children with GH deficiency (GHD). In this phase 3 study, children with GHD received either somatrogon or Genotropin. The impact of testing positive for anti-drug antibodies to somatrogon (ADA+) on the ef...

Context: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Type 2 BS results from a defect in the renal outer medullary potassium channel encoded by the KCNJ1 gene. Type 2 BS presents with polyhydramnios, intrauterine growth retardation, prematurity, failure to thrive, pol...

MicroRNAs (miRNAs) are small non-coding RNA molecules and play an important role in the post-transcriptional regulation of gene expression and thereby influence important cellular functions. In adipocytes, miRNAs regulate key processes such as differentiation, inflammation, metabolism, and adipokine secretion. Recently, we found that miR-27a is upregulated under proinflammatory conditions in human adipocytes. Thus, our goal was to better understand the function of miR-27a in a...

Background/Aim: The trade-off theory claims that a resource (calorie) stored in adipose tissue cannot be used for longitudinal growth, and a calorie used for growth will not be stored as fat.Methods: Out of 2339 children with longitudinal heights and weights (birth to adulthood) from the GrowUp1990 Gothenburg cohort, 1993 (996 girls) were analyzed. For everyone we calculated Energy Trade-Off Score: ETOS = at early adulth...