ESPE Abstracts

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

Introduction: Adolescents are considered the main consumer group of Energy Drinks (EDs). EDs are associated with adverse cardiovascular events, such as severe cardiac arrhythmia or arterial hypertension. Recent studies of our department revealed a significantly increased brachial blood pressure and arterial stiffness after the acute ED consumption in healthy adolescents. Increased central blood pressure is linked with the onset of end-organ damages such as lef...

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

Introduction: Thyroid surgery in children is associated with high risk of recurrent laryngeal nerves (RLN) damage. It is due to complex and variable anatomy, high bleeding which decreasing visualization and requiring instrumental hemostasis. Large goiters change of syntopy, metastatic process requires bigger aggression and volume of intervention. The risk of damage significantly increases during repeated operations due to the scar process. There is significant...