ESPE Abstracts

Background: 25–50% of paediatric patients with chronic endocrine diseases are lost for follow-up in adult care.Aims and objectives: A standardised medical and psychological work-up to identify disease specific morbidity and to comprehend quality of life in adolescents with chronic endocrine diseases at the time of transition from paediatric to adult care.Methods: The quality of life (DISABKIDS1 and KIDSCREEN2</...

Introduction: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation test and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Copeptin response to arginine-stimulation and insulin tolerance test (ITT) has been shown to be a putative parameter in the diagnosis of CDI in adults, but data are lacking for children and adolescents.Methods:</...

Introduction: The diagnosis of arginine vasopressin deficiency (AVD, formerly central diabetes insipidus) remains a challenge. Timely and accurate differentiation between AVD and primary polydipsia (PP) is pivotal for effective management. In recent years, stimulated copeptin has emerged as a promising tool to diagnose AVD.Methods: In this single centre retrospective study, we identified paediatric patients with suspecte...

Introduction: Bone Health Index (BHI) determined by measurement of cortical thickness of metacarpalia II-IV in x-rays of the left hand represents a method to estimate bone health in children. Aim of this study was to investigate changes of BHI SDS in the course of growth hormone (GH) treatment.Method: 256 consecutive children with short stature (isolated GH deficiency (IGHD) n = 121, multiple pituitary hormone deficiency...

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

Introduction: Pseudo-precocious puberty may be triggered by either endogenous or exogenous sex steroids. Accidental ingestion of contraceptives, anabolic steroids or life style products containing sex steroids as well as transdermal transmission of topical sex steroids may cause early onset of secondary sexual development.Objective: To report the clinical course of incidental contamination with topical sex steroids in ch...

Background: The neuroendocrine mechanisms of the initiation of puberty are still incompletely deciphered. Accumulating data indicate a main role of the glutamate system in regulating hypothalamic GnRH. However, the underlying neurobiological mechanisms are yet poorly investigated. Mice lacking metabotropic mGlu5 receptors (mGluR5) show sever unexplained infertility.Objective and hypotheses: We aimed in the present study to analyze the specific role of mG...

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...

Background: Several methods have been used to evaluate the risk of cardiovascular diseases in obese children. Both BMI and waist-to-hip ratio were suggested as risk factors. However, they did not prove to estimate the risk for cardiovascular events in adulthood. Recent studies suggest that the ratio of waist circumference to body height (WHtR) is a more reliable predictor for cardiovascular risk in 6-10-year old children (Kuba et al. 2013).Objec...