ESPE Abstracts

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

Increasing evidence suggests that the aetiology of disorders of sex development cannot be solely explained by genetic alterations. It is highly likely that environmental factors hitting susceptible genetic backgrounds are partly causative. Zebrafish sex is highly plastic during development, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly...

Glucocorticoids regulate a wide range of biological processes including metabolism. Patients with adrenal insufficiency show impaired glucocorticoid biosynthesis either caused by adrenal defects (primary adrenal insufficiency) or by defects in the pituitary gland or hypothalamus (secondary or tertiary adrenal insufficiency). The systemic consequences of differentially disrupted steroid hormone biosynthesis remain unclear. Increasing evidence suggested steroid hormone precursor...

Background: Puberty is a time of hormonal changes that are associated with insulin resistance. Although insulin sensitivity is restored at the end of puberty in healthy youth, it does not resolve in obese adolescents leading to an increase of cardio metabolic disease such as type 2 diabetes. In response to an increase in insulin demand, as during pregnancy or obesity-induced insulin resistance, β-cells increase their functional mass to maintain glucose homeostasis. Howeve...

Background: Profound hypothyroidism due to Hashimoto thyroiditis (HT) is a cause of severe growth arrest in children. Although it is commonly thought that thyroxine replacement fully restores height deficit, no data on catch up growth are available.Objective and hypotheses: Assess the growth pattern and final height in a series of 10 patients with severe HT afec L-thyroxine therapy was initiated.Method: Monocentric retrospective ob...

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...

Background: The human microbiota has emerged as an unexpected modulator of the immune system. The placenta, long thought to be sterile, harbors a unique microbiome and variations in their composition could be related to prevent pregnancy disorders.Objective and hypotheses: To profile the placental microbiota (microorganisms) and microbiome (collection of microbial genomes in an environment) in women with gestational diabetes (GDM) and study their relatio...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....

Objective: To explore the clinical manifestation of a case of hereditary hypophosphataemic rickets with hypercalcuria (HHRH), describe a potentially novel mutation and identify key learning points in the diagnosis and management.Background: Inherited forms of hypophosphoatameic rickets such as XLH have phosphaturia, often mediated by elevated FGF-23 levels and low or inappropriately normal 1,25 OHD levels. Conversely, in...

Background: Although the highest prevelance rates of childhood obesity and overweihgt have been observed in developed countries, its prevelance is reported to be increasing in developing countries as well. Prevelance of obesity and overweight in different regions of Turkey ranges between 1.6–7.8 and 9.9–17.6 respectively.Objective and hypotheses: The purpose of this study was to investigate the prevelance of obesity and overweight among student...