ESPE Abstracts

Background: Recent research has demonstrated earlier testicular and pubertal development in Western boys. New ultrasound-based references of testicular growth in Norwegian boys are now available. Population specific references for FSH, LH and sex steroid hormones have not been previously available in Norwegian children and adolescents.Objective and hypotheses: We aimed to provide an elaborate description of pubertal development in a sample of contemporar...

Introduction: Male puberty is initiated by endocrine signaling in the hypothalamic-pituitary axis whereby follicle-stimulating hormone (FSH) and luteinizing hormone (LH) enable testicular maturation and synthesis of testosterone. Recent publications have eluded to overnutrition and obesity as relevant factors that may accelerate the timing of puberty. Attainment of testicular volume (TV) 4 ml measured by Prader orchidometer remains the definition of male puber...

Background: There is no knowledge of the energy metabolism in the presence of X chromosome aneuploidy or structural aberrations. Recently, an abnormal muscle metabolism was observed in girls with Turner syndrome (TS).Objective and Hypotheses: Resting energy expenditure was prospectively estimated by indirect spirometry in 92 short prepubertal girls at the start of GH therapy.Method: The diagnoses were TS (n=23), GH deficie...

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

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...

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...