ESPE Abstracts

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

Background: Recent work revealed two pathways in androgen biosynthesis, namely the classic and an alternative, the backdoor pathway. In this alternative pathway dihydrotestosterone is produced from 17-hydroxyprogesterone without the intermediacy of testosterone using mostly enzymes that are specific to the backdoor path. In the human ovary, regulation of androgen production plays a crucial role in normal physiology and in pathologies such as the polycystic ovary syndrome (PCOS...

Background: Disorders of carbohydrate metabolism in children and adolescents with cystic fibrosis occur from 5 to 12.6%, significantly increasing during the teenage period and reaching 24–50% in adults.Method: An analysis of 499 medical records was conducted. All the patients were treated in the Russian Children’s Clinical Hospital in 2012. The survey was carried out on carbohydrate metabolism and indications according to children after 12 year...

Background: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

Background: The average age at pubertal onset is declining worldwide which has received a lot of scientific and public attention. This secular trend is accompanied by an increasing number of children diagnosed with precocious puberty in many countries worldwide. However, there is less focus on the secular changes in the upper and lower boundaries (+/- 2 standard deviation (SD)) for pubertal onset and very little is known about whether a secular trend in the in...

Introduction: Diagnosing growth hormone deficiency (GHD) in children is complex. Spontaneous growth hormone (GH) pulses during late night may influence the pituitary GH response to provocation tests. We evaluated refractoriness during arginine-insulin-tolerance test (AITT) when having a GH-peak during a short spontaneous nocturnal profile in children with short stature.Methods: Altogether 257 children 0-18 years were exa...

Introduction: In the last years, the relationship between clinical markers and blood parameters has been evaluated closely as part of transversal studies, but a longitudinal approach might be more useful in explaining its complexity.Aim: The study aims to evaluate the relationship between changes in the values of clinical markers and of the inflammatory, biochemical and hormonal profiles of obese and overweight children ...

Background: Low stress resilience in late adolescence and psychosocial traumatic events in adulthood have been linked to a higher risk of developing type 2 diabetes (T2DM) later on in life. However, limited data is available regarding whether prior stressors are related to the risk of developing T2DM in adolescence.Objective: We sought to determine the potential association between prior toxic stressors and T2DM in adolescence.Desi...

Background: On reviewing practical aspects of intravenous bisphosphonate use in our tertiary Children’s Hospital, we noted disparity between departments who prescribed these drugs. This included issues pertinent to patient safety and hospital management, e.g. the need for overnight admission for the first infusion, blood tests and monitoring for adverse events (AEs). We therefore decided to survey the practices of other tertiary Paediatric Endocrinology Centres.<p cla...

Infantile hepatic hemangiomas (IHH) particularly the diffuse subtype, can in severe cases be associated with hepatic and cardiac failure, compartment syndrome, and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of longterm sequelae. Thyroid hormones are crucial for growth and neurodevelopment, with three to five IQ points lost for each month hypothyroidism remains untreated in the first year of life. ...