ESPE Abstracts

Background: Prenatal growth restraint associates with increased oxidative stress – as judged by mitochondrial dysfunction – in pregnancies complicated by preeclampsia or diabetes, but it is uncertain whether this is also the case in uncomplicated pregnancies.Objective and hypotheses: To assess the link between fetal growth restraint and placental mitochondrial dysfunction, as reflected by changes in mitochondrial DNA content and superoxide dism...

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

Background: Children born small for gestational age (SGA) are predisposed to metabolic abnormalities. While the therapeutic benefit of recombinant human growth hormone (rhGH) therapy in improving height is widely recognised, it can affect carbohydrate metabolism, potentially inducing diabetes.Objective and hypotheses: This ongoing, prospective study aims to evaluate the long-term safety and efficacy of Omnitrope® (somatropin) in children ...

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To characterize genomic STAT5B DNA in two families exhibiting short stature.Methods: Sanger sequencing of STAT5B from genomic DNA. Mutant STAT5B constructs were expressed in HEK293 cells.Results: ...

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Background: One of the limiting factors in adherence to GH therapy, is satisfaction with the administration device used.Objective and hypotheses: With the emergence of a new biosmiliar GH (BGH) administration device, we will assess the simplicity, ease of use, management and pain perceived by the patients.Method: Prospective through survey caregivers and children treated with BGH at least for 6 months. Signed informed consent was r...

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Background: Intrauterine growth restriction (IUGR) is associated with higher risk of cardiometabolic disease. Perturbation of endoplasmic reticulum (ER) homeostasis activates a set of ER-to-nucleus signaling pathways known as unfolded protein response (UPR). We previously showed that IUGR is associated with the activation of hepatic UPR and abnormal glucose profile in male Sprague-Dawley rats. Herein, we report the impact of IUGR on pancreas UPR in the same ex...