ESPE Abstracts

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Reports on preterm born young adults’ bone health give conflicting results. Lower areal bone mineral density in the preterm born population has partly been explained by their smaller adult size. Male sex has previously been reported as a risk factor for impaired bone health in preterm born adults. We performed a bone mineral density measurement of the lumbar spine and both hips with DXA in 37 preterm born young adults, of whom 22 were women and 15 men, at a mean age of 2...

Background: To date a lot of data on the efficacy of GH treatment of children with short stature was accumulated. GH is the major but not exclusive endocrine regulator of linear growth. Influence of multiple pituitary hormone deficiencies on the final growth remains poorly understood.Aim: To compare the results of treatment with GH in patients with isolated GH deficiency and multiple pituitary hormone deficiencies.Methods: 15 patie...

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, its evolution from this steatosis to fibrosis and its correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated screening tool in consultation would be very useful.Main objective: To evaluate if the measurement of intraperitoneal fat measured through nutritional ultrasound, allows the diagnosi...

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, the evolution of this steatosis towards fibrosis and correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated in-office screening tool would be very useful.Main Objective: To evaluate whether the measurement of intraperitoneal fat measured through nutritional ultrasound allows for the diagnos...

Objective: To evaluate cardiovascular autonomic neuropathy (CAN) in type 1 Diabetics and to detect its relation to coronary artery calcification.Patients and methods: It is a cross sectional study included 62 diabetics and 30 controls. Clinical, laboratory assessment and 24 h holter were done for all patients and controls and coronary artery calcium (CAC) scoring by multisclice CT was done for all patients only. t-test, Mann–Whitney U-test ...

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...