ESPE Abstracts

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

Background: Childhood obesity represents an important public health problem and its diagnosis and management should be based on current guidelines. Prevalence of childhood obesity in Romania is one of the lowest in Europe but with a positive trend.Aim: The aim of the current study was to analyze the implementation of the recommendations of the 2017 Endocrine Society Clinical Practice Guideline on Assessment, Treatment an...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

Background: Childhood adolescence overweight and obesity are increasing in Romania, but limited information is available on their current trends.Aim: the current study aimed to analyze the trend in prevalence of weight disturbances and stunting in the past 5 years in school aged children from the Transylvania region in Romania.Material and Methods: Two cross-sectional data sets fro...

Background: Multiple external influences have proved to be of importance in auxology. Sub-group analysis can identify specific factors involved in normal children development.Objective and hypotheses: The main objective of the study was to identify differences in development in children born the same day from different parents. Our hypothesis was that there are identifiable general factors that predict the growth of a child.Method:...

Background: For children above 5 years of age no specific national growth charts are available in our country, the most widely used being the Swiss ones (Prader, 1989). Previous studies have shown significant differences between the various international standards available regarding. The incidence of growth disorders.Objective and hypotheses: Our aim was to compare the recommended growth reference with a new one based on a national representative sample...