ESPE Abstracts

Introduction: Prematurity, a worldwide health issue, is often associated with renal tubular immaturity leading to major salt loss, whose mechanisms remain poorly understood. Moreover, these premature infants are prone to develop hypertension early in adulthood.Objective: To study the ontogenesis of renal mineralocorticoid and glucocorticoid signaling pathways in preterm infants and to evaluate their respective role during neonatal adaptation and in the e...

Background: Unlike term neonates, known to exhibit a physiological pseudohypoaldosteronism, very preterms (VPT) display a high sodium waste at birth with partial aldosterone deficiency. This context, combined with a low aldosterone/renin ratio is highly suggestive of a defect in mineralocorticoid biosynthesis.Objectives and hypotheses: To investigate mineralocorticoid and glucocorticoid pathways in newborns, and to clarify the impact of prematurity upon ...

Background: GRB10 negatively regulates IGF1 signalling, influences growth and promoter polymorphisms are associated with GH response1. GRB10 knockout-mouse models display foetal overgrowth2, however, the mouse model has only partial similarity to human growth3. There is evidence that the zebrafish is an appropriate model to study growth4 and has the advantage of being easily genetically manipulated.<p class="abs...

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...

Kallman syndrome is defined by the association of anosmia due to an agenesis of the olfactory bulbs and hypogonadotropic hypogonadism due to a GnRH deficiency which is currently explained by a deficit of GnRH neuron migration from the olfactory placode toward the hypothalamus. In fact, the X-linked form of KS is due to loss of function mutations in ANOS1 which encodes an extracellular protein (ANOSMIN) interacting with cell membrane heparin sulfate proteoglycans but a...

Background/Aim: Sex hormones drive organizational and activational changes in craniofacial structures and various regions of the brain and establish a sexual dimorphism in the re-shaping of the brain and related structures during puberty. Although the evolutionary approach, which accepts the brain and related structures as secondary sex characteristics since they are target organs for sexual selection, increases awareness of the role of sex hormones in sex-spe...

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

Background: Melatonin is known to regulate a variety of biological processes. The investigation and application of melatonin in oral development have got a lot of attention. The study was performed to investigate the effects of melatonin on development of human dentin formation.Objective and hypotheses: To investigate the role of melatonin in proliferation and differentiation of human dental pulp cells(hDPCs).Method: HDPCs were obt...

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7&div;12,3), all have microdeletion of paternally inherited 15q11....