ESPE Abstracts

Introduction: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...

Background: Hypophosphatasia (HPP) is an inherited bone disorder caused by ALPL gene mutations. It is classified into 6 clinical types (perinatal lethal form, prenatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia). Severe types show autosomal recessive inheritance, and mild types show autosomal recessive or autosomal dominant inheritance. The adult form is asymptomatic in childhood. Treatment includes ALP enzyme ...

CRN04777 is an orally administered nonpeptide that is a potent and selective agonist of somatostatin 5 (SST5) receptors and is currently under development for the treatment of congenital hyperinsulinism (HI), the most common cause of persistent hypoglycemia in newborns and infants. Congenital HI arises from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet beta cells. This excess insulin ...

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

Background: Short stature occurs in both Trisomy 21 and Turner syndrome. This unusual case has a de novo mutation of 47,X,del(X)(p22.3),+21 with clinical features of both syndromes. Growth assessment data and investigations was previously discussed in ESPE2016.Case: Following growth assessment due to parental concern that her short stature was too short for either syndrome and a falling height velocity of 3.5 cm/year at 2.8 years, the decision was made t...

Background: In the last 50 years bone age has been manually evaluated using the method of Tanner and Whitehouse. Recently automated image analysis has been introduced for bone age determination. The automated method shows good agreement with manual evaluation; further, the precision of the automated method may be higher compared to the manual method.Objective and hypotheses: To report on the discrepancy of bone age determination using the manual TW2 meth...

Keywords: Hypertriglyceridemia; Familial Chylomicronemia Syndrome; GemfibrozilBackground: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. FCS is estimated to occur in 1 in 1 - 2 million individuals [1] and can be diagnosed at any age, affecting all ge...

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

Background: Growth hormone deficiency (GHD) in children is a rare condition, which requires pathogenic therapy. In Russia GH treatment (GHT) is part of a federal program called “Seven high expenditure diseases” (7HED) and is fully state funded. In the rare cases when a GHD child cannot be treated with GH, financial and medical support for the child and its family is provided by the state. It is therefore important to understand the cost-effectiveness of GHT for child...