ESPE Abstracts

Introduction: Growth hormone (GH) treatment has been shown to increase height velocity and adult height in patients with Noonan syndrome (NS). NS is also associated with cardiovascular (CV) anomalies, namely pulmonary stenosis and hypertrophic cardiomyopathy. Concerns persist about the role of GH in progression of CV conditions despite data, albeit limited, showing low rates of CV events and left ventricular wall thickness remaining normal. This pooled analysi...

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...

Introduction: Turner syndrome (TS) is a common genetic disorders with an estimated range of occuring in 25–210 per 100 000 liveborn females. In Denmark the prevalence of TS has been found to be 40 per 100 000 liveborn females. Our aim was to study the epidemiology of TS in Iceland for the period of 1968–2012.Methods: Primary source of data were hospital records and records from all pediatric endocrinologists in Iceland. To validate the data the...

Background: Regulatory T cells (Treg) of phenotype CD4+CD25+FoxP3+ involves active suppression of excessive immune response. The population of Treg cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. Although there are many reports of investigations on human and animal populations, the role of regulatory T cells in the development of type 1 diabetes is still unclear.Objective and hypotheses: The aim of the study is t...

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

Objective and hypotheses: The aim of the study is comparison of the occurrence of islet autoantibodies in healthy siblings of children with T1DM to healthy children from non-diabetic families.Method: Determination of anti-decarboxylase of the glutamic acid antibodies (anti GAD-Ab), anti-protein tyrosine phosphatase (anti IA2), and antibodies against zinc transporter eight (anti ZnT8) in 75 children with T1DM, their siblings – 105, and 77 healthy chi...

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

Background: Accurate prediction of responsiveness to growth hormone (GH) therapy is an important issue. The 1st year response to treatment is regarded as significant predictor of the attained final height. Neural networks are techniques of machine learning which do not require any assumptions and preprocessing of data, contrary to linear regression models.Objective and hypotheses: The aim of the study was to predict height velocity (HV) during 1st year o...

According to current recommendations, children with height SDS <-3.0, normal growth hormone (GH) peak in stimulation tests (stimGH) and severe IGF-I deficiency (IGFD) may be diagnosed with primary IGFD and treated with recombinant IGF-I. The need for direct confirmation of GH insensitivity is a matter of discussion. On the other hand, children born small for gestational age (SGA) with no catch-up growth are qualified to GH therapy despite normal GH secretion. The fact that...