ESPE Abstracts

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

Inorganic phosphate is essential for bone stability and various cellular metabolic pathways. Serum phosphate levels are regulated by an endocrine triangle of calcitriol, parathyroid hormone and fibroblast growth factor 23. In addition, a mineral buffering system is required to prevent mineral stress and ectopic calcification by spontaneous precipitation of calcium and phosphate. Current research indicates a complex interplay of phosphate homeostasis and inflammatory processes,...

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

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...

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

Background: Childhood obesity increases the risk for adult obesity and cardio metabolic disease.Objective and hypotheses: The aim with the present study was to investigate longitudinal changes of childhood body mass index (BMI), overweight, and obesity in boys born 1946 until present time, using the population-based BMI Epidemiology STudy (BEST) cohort in Gothenburg, Sweden.Method: We collected detailed growth data (height and weig...

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

Background: Adipocyte fatty acid binding protein (aFABP) regulates intracellular transport of fatty acids and seems to be involved in the pathogenesis of the Metabolic Syndrome. aFABP overproduction leads to increased cholesterol and triglyceride accumulation and to higher expression of pro-inflammatory genes. In adults aFABP seems to promote insulin resistance and atherosclerosis, and aFABP levels are significantly higher in obese compared to lean subjects. Fat mass, lipid ma...

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...