ESPE Abstracts

Background: Although GH’s safety profile since 1987 is good, concerns remain regarding cancer (CA) risk, and French SAGhE data indicated increased mortality and cerebrovascular disease (CVD) in certain GH-treated patients (pts).Objective and hypotheses: To evaluate key safety outcome incidence in GH-treated pts of all short stature diagnoses (dx) who participated in GeNeSIS (1999–2015, 30 countries).Methods: Pt history/ca...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

Introduction: Increased adiposity has been associated with smoldering systemic inflammation and metabolic syndrome manifestations, leading to further morbidity by increasing the risk for type 2 diabetes mellitus and cardiovascular disease in adults. Similar analyses have not been performed systematically in children and adolescents.Hypothesis: This study investigates the interrelations between body composition parameters and indices of inflammation and m...

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

Introduction: Exercise has pleiotropic positive effects for children and adolescents with Type 1 Diabetes (T1D). It improves glycemic control, daily insulin requirements, quality-of-life, morbidity and mortality rate. Leptin and adiponectin are adipocytokines produced by adipose tissue cells. Adiponectin is anti-atherogenic, anti-diabetic and anti-inflammatory, whereas leptin induces insulin resistance, has thermoregulatory properties and is pro-inflammatory.<...

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

Background: The myokine irisin, is associated with the metabolic and hormonal dysregulation of polycystic ovary syndrome (PCOS) in adult women. Recent studies have shown that circulating irisin levels increase in adult women with PCOS.Objective and hypotheses: The purpose of this study was to determine serum concentrations of irisin in lean adolescents with PCOS and healthy controls and to evaluate correlations with clinical, sonographic and hormonal par...

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....