ESPE Abstracts

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

Background: Due to its short half-life, conventional biosynthetic human growth hormone needs to be given daily which may represent a burden for patients and their families. Novel long-acting growth hormone (GH) formulations are under development and enable reduced injection frequency through once weekly administration. Two surveys were designed to collect first insights and expectations towards new long-acting formulations. Metho...

Context: Osteocalcin is a bone formation marker that has recently sparked interest for its endocrine involvement in glucose homeostasis and obesity. Nevertheless, its natural pattern during infancy and early childhood remains unknown.Objectives: We established reference values for total serum osteocalcin during specific timepoints from birth until five years of age, and presented these in the context of covariates.<p...

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

Background/Objective: Smoking during pregnancy is known to influence prenatal/postnatal growth of the offspring. We investigated the impact of smoking in the Swedish reference population for new reference for height, weight and BMI, the GrowUp1990Gothenburg cohort.Material/Methods: The study was based on 1907 healthy children (918girls/989boys) born at term in Sweden with Nordic parents and longitudinal growth measurements. 155girls/180b...

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

Objectives: The aim of this study is to describe the clinical characteristics of Austrian children and adolescents with gender dysphoria seeking gender affirming medical care, as well as their treatment trajectories.Methods:In this retrospective study at a large university hospital, a chart review of all patients presenting with gender dysphoria at the pediatric outpatient clinic for differences in sex development betwee...

Background: Both timing of menarche and growth patterns have changed with time (secular changes), highlighting the need of updated knowledge in this topic1. Questions how growth is related to menarche are common in pediatric/pediatric endocrine outpatient clinics. The QEPS-growth model makes it possible to conduct detailed analyses of pubertal growth2.Objective: To investigate the relationship betwe...