ESPE Abstracts

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

Here we describe a 10 week old previously healthy infant that underwent several severe adrenal crises marked by electrolyte disturbances (K=7.8 Na=128), and cardiorespiratory resuscitation (intubation and pressors). The adrenal insufficiency developed while admitted after developing a short febrile illness, and severe prolonged watery diarrhea, accompanied by development mild hypertransaminasemia and rash. Crises were characterized by elevated Renin 119 mU/l [Ref: 3.4-64], ina...

Objectives: To determine who spends more energy over a lifetime on maintaining their reproductive potential: men or women?Design: As a model and energetic equivalent, we set the mass of gametes supported over time from birth until exhaustion of fertility. We calculated gender-specific dynamics of gamete pool mass over time. To this purpose we collated data from existing literature, accounting for gamete volume over stage...

Purpose: To assess the prevalence in 2017 and elucidate the well-being of youngsters with gender dysphoria.Background: Gender dysphoria is described as a strong and persistent feeling of being born in the wrong sex. Often the feeling is associated with impaired ability to function in everyday life, found in children, adolescents and adults. For adolescents with gender dysphoria, puberty is an additional mental strain that can lead to depression, anxiety ...

The development of the artificial pancreas or closed loop for type 1 diabetes, which started as a concept in the last century, took off once continuous glucose monitors became available. The first hybrid closed loop entered the market in 2016, where now several systems compete. This creates the ‘luxury problem’ of having to choose between different systems. Anonymized CGM data collection from company databases try to address the question whether performance in opti...

Introduction: This test assessed the safety and usability of FlexPro® 30 mg/3 ml (Novo Nordisk A/S, Denmark), a pen-injector for injection of human GH in patients with GH deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA), and validated the instructions for use (IFU) and instructional video.Methods: Children with GHD/SGA or TS/NS, adult patients, caregivers of patients with GHD/S...

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...

Introduction: The goal of treating short children with growth hormone (GH) is to normalize adult height adjusted for mid parental height (MPH). We obtained adult height data on 87 patients (23 girls, 64 boys) treated with GH who originally participated in a randomized, prospective, open-label clinical trial with either personalized dose based on a prediction model (n=58), or standard dose (n=29). The children were either growth hormone defici...