ESPE Abstracts

Background: Few studies have investigated how the pubertal increase in testicular volume (TV) is related to pubertal growth spurt in a longitudinal setting. Increased TV, indicating onset of puberty in boys, mirrors the enhanced testosterone production in the testicles which also give rise to the pubertal growth spurt. The QEPS-growth model makes it possible to conduct detailed analyses of pubertal growth and separate total growth into specific pubertal (P-fun...

Purpose: The anogenital distance (AGD) is androgen action dependent. It is sexually dimorphic and seems to be shorter in androgen-action related diseases like hypospadias. In this study we sought to determine whether the AGD is predictive for surgical outcome in hypospadias repair.Material and Methods: Patients were collected prospectively. AGD was measured in OR prior to surgery by 2 surgeons (blinded, each 3 times). Ou...

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

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...