ESPE Abstracts

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...

Background: GH replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) is being developed for once-weekly administration in GH deficient (GHD) children. In the present study the longer term pharmacokinetics (PK) and pharmacodynamics (PD) profile of MOD-4023 in GHD naïve children was assessed.Objective and hypotheses: To assess the long acting prope...

Background: Evidence associates obesity with glomerular hyperperfusion. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults.Objective and hypotheses: To investigate the relationship between childhood obesity and risk of renal impairment.Method: A total of 114 (38.6% boys) obese according to the IOTF reference but otherwise health...

Background: Many children still miss the early recognition of their stature problems due to inefficient screening strategies.Objective and hypotheses: To assess stature deviations referral through recruiting general practitioners (GPs) and providing them with tools for easier anthropometric data assessment and enhanced access to the Paediatric Endocrinologist.Method: Thirty-one general practitioners with a total of 23 058 patients ...

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 ...

It is well known that early diagnosis of growth disorders in children and their timely treatment are important for better outcomes.Objective: To evaluate the results from the implementation of the Partners4Growth Twinning Programme at Bulgarian tertiary pediatric endocrinology clinics. Materials and Methods: Since 2019 Partners4Growth started operation at 6 centers – 3 experienced in growth disorders reference centers and 3 twin cen...

Introduction: Worldwide the incidence of small for gestational age (SGA) births varies between 2 and 10%. In Bulgaria there is not enough data for the SGA births prevalence in the last 20 years. There is only one population based study focused on late SGA complications that found the world-known relative share of SGA children who don’t catch up - about 10%. The indicated growth hormone treatment is still not reimbursed in the country for short SGA childr...