ESPE Abstracts

Background: Diabetes is associated with increased risk of vascular disease. In children and adolescents with type 1 diabetes (T1D), clinical manifestations of vascular complications are infrequent; however, a pro-inflammatory state and endothelial disturbance could appear early. A subclinical inflammation state result in increased plasma levels of adhesion molecules, inflammatory cytokines as tumor necrosis factor alpha (TNFα), and acute phase proteins as C-reactive prote...

Lonapegsomatropin (TransCon hGH) is an investigational once-weekly prodrug of somatropin for the treatment of GHD. Previous trials in treatment-naïve (52-week heiGHt Trial) and treatment-experienced children (26-week fliGHt Trial) have reported the efficacy and safety of lonapegsomatropin. Subjects were eligible to enter the open-label extension enliGHten Trial, which continues to evaluate weekly lonapegsomatropin in pediatric GHD. In heiGHt, treatment-naïve subjects...

Background: Obesity in childhood and adolescence represents a major health problem that reached epidemic proportions in the last decades. Obesity is characterized by an increase in the adipose tissue, which leads to chronic inflammation and release of adipokines, like Fibroblast Growth Factor 21 (FGF21). On the other hand, intense exercise results in decreased adipose tissue, which leads to the release of proteins, the myokines, like irisin. In obesity a resistance in FGF21 an...

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Background: Obesity in childhood and adolescence represents a major health problem and is associated with significant morbidity and mortality in adult life. Osteopontin, NGAL and Sclerostin are bone biomarkers, however, little is known about their role in obesity.Objective and Hypothesis: The aim of our study was to determine the concentrations of Osteopontin, NGAL and Sclerostin in children and adolescents with overweig...

Background: Obesity in childhood and adolescence represents one of the main health problems of the 21st century. Fibroblast Growth Factor 23 (FGF-23) and its co-receptor, Klotho, play an important role in mineral metabolism, however, little is known about their role in obesity.Objective and Hypothesis: To determine the concentrations of FGF-23 and Klotho in children and adolescents with overweight and obesity.<p class="abs...

WHO defines children born with intrauterine growth restriction (IUGR) as those with a birth weight below the 10th percentile of recommended birth weight by sex for gestational age. When gestational age is not available, a birth weight < 2500 g should be considered. The adult height in IUGR children treated with GH depends mainly on the duration of treatment and the age of initiation. Early diagnosis and early management before puberty are therefore imperative.<p class="...

Background: The circadian rhythm-generating peripheral Clock/Bmal1 heterodimer complex regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes.Objective and Hypotheses: To investigate the potential role of elevated cortisol in Clock/Bmal1 heterodimer complex-generated circadian biorhythms, both ...