ESPE Abstracts

We report the case of a 19 years old male patient suffering from a multisystem disease involving of the skeleton, connective tissue, immune system, brain and endocrine system due to compound-heterozygote mutations in the NBAS (Neuroblastoma amplified sequence) gene (c.5741G>A [p.(Arg1914His)]; c.6565_6566insT [p.(Glu2189Valfs*7)]), detected using whole-exome-sequencing. He has an immunodeficiency including decreased CD4+T-cells, B-cells and NK-cells with expanded ...

Deletions at 16p11.2 have been reported to be associated with obesity, intellectual disability and various malformations. There are variations in phenotypes associated with deletions of different sizes in this region. Some deletions encompass the SH2B1 gene encoding an adaptor protein involved in leptin and insulin signalling which is believed to be causal for the early-onset obesity of these patients who in addition show a developmental delay (see patient 1). Deletio...

Context: Specific references for height, weight and BMI that consider the maturation tempo for onset of puberty are lacking worldwide.Aim: To fill the gap, by developing specific pubertal references for heightSDS, weightSDS and BMISDS, all aligned for the individual onset of puberty.Method: Reference population: a subgroup of GrowUp1990Gothenburg cohort of 1572 (763 girls) health...

Background: Analysis of steroids by gas chromatography-mass spectrometry (GC-MS) defines a subject’s steroidal fingerprint. Here, we compare the steroidal fingerprints of obese children with or without liver disease to identify the ‘steroid metabolomic signature’ of childhood non-alcoholic fatty liver disease.Methods: Urinary samples of 85 children (43 girls) age 8.5–18.0 with obesity (BMI >97%) were quantified for 31 steroid meta...

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease seen in children. The systemic features of JIA are mediated by cytokine products of an activated immune system. Recent studies showed that the median level of urine cortisol in active JIA patients is significantly lower than remission period and control groups.Objective and hypotheses: One of the najor drugs in JIA is TNFα blocker (Enbrel). The aim of the study was ...

Background: Growth patterns in early childhood are important for predicting adult overweight or obesity. BMI is the most widely used measure. However BMI does not reveal much regarding the distribution of fat, for example the visceral fat that in adults is highly correlated with metabolic risk. Waist-to-Height Ratio (WtHR) is in adults a better measure for visceral fat and studies indicate that the same applies to children.Objective and hypotheses: To st...

Background: Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT) is a clinically and electrographically heterogeneous steroid-responsive encephalopathy associated with thyroid autoantibodies.Objective and hypotheses: To investigate, whether children and adolescents with Hashimoto’s Thyroiditis (HT) lacking acute clinical manifestation of SREAT show electroencephalogram (EEG) alterations, and to compare EEGs of HT patients with those...

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...