ESPE Abstracts

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

Background: Despite a shining sun all through the year, vitamin D deficiency is still prevalent in Egyptian children which suggests a relative resistance to vitamin D in Egyptian population.Aim: To assess 25(OH)D status in healthy pre-pubertal Egyptian children and to relate its levels to anthropometric parameters in these children.Methods: Sixty healthy children aged between 3 and 10 years coming to the Outpatient clinic, Children...

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

Objective: The A1C assay, expressed as the percent of hemoglobin that is glycated, measures chronic glycemia and is widely used to judge the adequacy of diabetes treatment and adjust therapy. Day-to-day management is guided by self-monitoring of capillary glucose concentrations (milligrams per deciliter or millimoles per liter) as well as by using continuous glucose monitoring systems (CGMS). We found a mathematical relationship between A1C and average glucose (AG) levels meas...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

Background: Hyperuricemia has been found to be associated with non-alcoholic fatty liver disease (NAFLD).Aim: The aim of this study was to evaluate whether allopurinol affects the course of experimental NAFLD in rats.Study Design: Mature, albino Sprague Dawley rats were fed water containing 30% fructose without ethanol for up to 8 weeks. After demonstration of steatosis in the 8th week, either allopurinol or saline was administered...

Background: Central Precocious Puberty (CPP) may be lead to consequences such as limitation adult stature, sexual abuse, and emotional distress. GnRH agonist therapy in patients with CPP has been demonstrated in increasing adult height and improving emotional distress in puberty stage.Objective: Evaluating the efficacy of treatment in patients with central precocious puberty after one year in Children Hospital 2, Vietnam in 7 years, from 01/2017 to 12/20...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...