ESPE Abstracts

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: Early detection of diabetic nephropathy is of great importance. Renal functional reserve (RFR) is the difference between glomerular filtration rate (GFR) in basal conditions and GFR after a protein meal.Objective: To examine renal functional reserve in children with type 1 diabetes mellitus (T1D) in order to detect diabetic nephropathy at early stage.Method: Case control study included patient...

Background: In a previous study, we reported that adult height (AH) outcomes in growth hormone treated males with Silver-Russell syndrome (SRS) were negatively correlated with estradiol concentrations before start of puberty and in early puberty. Whether elevated estradiol concentrations originated from adrenal or testicular androgens is unclear. We aimed to describe androgen secretion patterns and investigate correlations between androgen concentrations and A...

Background: We have previously shown radioimmunoassay (RIA) and gas chromatography-tandem mass spectrometry (GC-MS/MS) to be comparable when analyzing estradiol and testosterone concentrations in prepubertal and pubertal children. However, the reliability for steroid hormone determination with RIA in umbilical cord blood is not known. In general, older studies using RIA show higher values of testosterone, than more recent ones using MS/MS.Patients and me...

Background: Children with Silver Russell syndrome (SRS) suffer from severe intrauterine growth retardation. During infancy, short stature and delayed bone maturation are common features. A majority of these children initially have a good growth response to GH treatment. A catch-up period of skeletal maturation is often seen in early puberty. Later in puberty poor height acceleration may be seen.Objective and hypothesis: The objective of this study was to...

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

Background: Gender differences in sex steroids and IGF1 are well known from pubertal years into adulthood. Few studies report data from pre-school years.Objective and hypotheses: To study gender specific changes in sex steroids and IGF1 at birth and at 5 years of age and correlate these with auxological measurements. There are gender differences in IGF1 levels due to differences in sex steroids already at birth and during pre-school years.<p class="a...

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...