ESPE Abstracts

Background: The clinical diagnosis of x-linked hypophosphatemic (XLH) rickets is based on a number of biochemical observations. These include a reduction in the percentage of tubular reabsorption of phosphate (%TRP), and in the maximal tubular phosphate reabsorption capacity corrected for glomerular filtration rate (TmP/GFR). However, it is important to maintain sufficient renal blood flow in order to accurately calculate TmP/GFR.Objective: The aims of t...

Background: The prevalence of macrovascular complications is probably underestimated in children with type 1 diabetes (T1D). Arterial stiffness (AS) represents a subclinical marker of CV risk. The most validated non-invasive method for AS measurement is pulse wave velocity (PWV). There are limited numbers of studies with PWV on children with T1D.Aim: Our aim was to assess the relationship between AS and parameters associated with metabolic control in chi...

Background: Small for gestational age (SGA) children, especially those with postnatal catchup growth, have increased risk of insulin resistance and adult metabolic diseases. Adipokines produced by adipose tissue play crucial role in fetal growth and early postnatal life. Low adiponectin (adipokine) is marker of insulin resistance.Objective: To evaluate adiponectin levels in term SGA at 15–18 months age and its relationship with postnatal catchup gro...

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

Background: Gonadal dysfunction is one of the major endocrinological late effects among cancer survivors. Chemotherapeutic agents and radiation are so gonadotoxic that ovarian reserve diminishes. Measurement of anti-müllerian hormone (AMH) concentration is useful as a marker of ovarian reserve or gonadal deficiency in female childhood cancer survivors (CCSs), particularly among patients without high gonadotropin levels.Objective and hypotheses: The ...

Introduction: Arginine vasopressin (AVP) and thirst are the main determinants of water homeostasis maintenance, and dysregulation leads to polyuria-polydipsia syndrome. This comprises of three key conditions: CDI due to insufficiently secreted AVP; NDI, due to renal AVP insensitivity and Primary Polydipsia (PP), caused by excessive fluid intake resulting in physiological suppression of AVP. Differentiating between these three conditions is important, as the tr...

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

Background: The most common reason for the increased mortality and morbidity in TS, which results from partial or complete deficiency of an X chromosome in a female, is acquired cardiovascular disease, which is the result of endothelial dysfunction that causes atherosclerosis. Endocan, an inflamatory marker, has been found elevated in several diseases with endothelial dysfunction (ED). There is no study of endocan levels in TS.Ob...

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...