ESPE Abstracts

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Exposure to endocrine disrupting chemicals (EDCs) during critical windows of development may play a role in this trend. Epidemiological and animal studies showed that exposure to phthalates and BPA could be associated with earlier puberty onset in girls.Objective: To investigate the association between the exposure to BPA, DEHP’s metabolites...

Background: Hypophosphatemia due to excess urinary phosphate losses and rachitic bone disease occur in several related disorders. The most common form of the heritable hypophosphatemic disorders, X-linked hypophosphatemia (XLH), is due to loss-of-function mutations of the osteocyte/osteoblast protein, PHEX. Reduced abundance of phosphate transporters on the luminal surface of renal tubular cells in the syngeneic animal model of XLH, and inappropriately normal (or frankly low) ...

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

Background: Animal studies suggest a role of vitamin D in fetal lung development although not studied in preterm animals.Objective and hypotheses: We tested the hypothesis that vitamin D depletion does not aggravate respiratory insufficiency in preterm rat offspring. Furthermore, the effects of vitamin D depletion on growth and lung surfactant were investigated.Method: Female Sprague-Dawley rats were randomly assigned low vitamin D...

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...

Background: Cardiomyopathy is a heterogeneous group of disorder of myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatationleading to heart failure. Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is rare inherited disorder of cortisol biosynthesis, due to genetic defects of CYP11B1 gene presenting as hypertension, features of androgen excess, and peripheral precocio...

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...