ESPE Abstracts

Background: Prolor Biotech, Inc. is a clinical stage public company developing long acting therapeutic proteins utilizing a technology called CTP. The technology involves fusion of the C-terminus peptide of hCG, which is a highly O-glycosylated peptide, to the target protein. Manufacturing process was developed to generate a reproducible highly glycosylated CTP-modified long-acting hGH (MOD-4023), which supports a single weekly injection in GH deficient patients. MOD-...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

Background: Craniopharyngiomas are rare suprasellar tumours with good survival but high endocrine morbidity. The commonest endocrinopathy is GHd which can precede diagnosis. Later obesity (BMI >+2SDS) may be treatment or tumour related.Objective and hypotheses: To evaluate endocrinopathy, height, weight and BMI outcomes after a conservative surgical treatment strategy with pre-treatment pituitary provocation tests for children diagnosed between 2009 ...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...