ESPE Abstracts

Background: Growth in infancy is considered primarily to be regulated by nutrition and insulin, whereas less is known about the influence of IGF-I, reproductive hormones and other factors of importance. Recently, paternally inherited genetic defects of DLK1 (Delta-like 1 homolog) were found in girls with central precocious puberty (CPP) with a metabolic phenotype. In addition, low maternal serum DLK1 concentrations were significantly lower in pregnant women wh...

Background: Little is known about the prevalence of neonatal hypoglycaemia in the absence of known risk factors, nor its associated neurodevelopmental outcomes. Neurological harm from hyperinsulinism induced hypoglycaemia (HH) may be due to the direct effect of hypoglycaemia as well as its sequelae, such as seizures or apnoeas, leading to secondary insults such as hypoxic brain injury. With our case series we highlight such risks and propose changes to support...

Inflammation is a known feature of Down syndrome (DS) and is caused by a dysregulation between pro and anti-inflammatory cytokines. Hashimoto's thyroiditis (HT) is characterised by a slowly developing persistent inflammation of the thyroid gland which frequently leads to hypothyroidism. In DS children, HT is the most common autoimmune disease ad its prevalence has been reported to be more elevated than that generally seen in age-matched patients without DS: 34% vs 1.3%, r...

Background: Currently, 1-4% of newborns have cryptorchidism and 30% of them have bilateral cryptorchidism (BC). BC should rule out 46, XX Disorder of Sexual Development (DSD). In 46, XY patients gonosomal abnormalities, alterations in genes involved in 46, XY DSD or hypogonadotropic hypogonadism may be the cause. Currently, patients with BC undergo early orchiopexy in the first 18 months of life. However, in these patients, BC etiology, pubertal development an...

Background: We describe the case of a male newborn, presenting in our outpatient endocrinological clinic after suffering from a bilateral adrenal haemorrhage in the context of a moderate perinatal asphyxia.Case Presentation: The term male newborn was born spontaneously from breech position after a prolonged labour in a secondary care centre in Freiburg, Germany. Perinatal BGA showed severe metabolic acidosis (pH 6.99, BE...

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...

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...

Background: Since its introduction in 1978, assisted reproductive technologies (ART) have been widely used to treat infertility. Worldwide, over 8 million children have been conceived by ART. Literature suggests that ART-adolescents potentially display altered vascular function. However, data concerning the cardiometabolic impact on the vascular function in ART-adolescents is limited. This study aimed to investigate the effects of blood lipids and HbA1c-levels...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...