ESPE Abstracts

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

Background: A neonate, born at 34 weeks gestation by caesarean section for foetal distress, was severely growth retarded at birth. Deranged liver functions were noted at birth with (alanine transaminase (ALT), aspartate transamninase (AST) and gamma-glutamyl transfererase (GGT) recorded as 102, 228 and 1078 U/l respectively. The GGT rose to a peak of 3877 U/l at 6 months of age. The clinical course of the neonate was associated with failure to thrive and intermittent hyperglyc...

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...