ESPE Abstracts

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...

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: 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...

Purpose: The anogenital distance (AGD) is androgen action dependent. It is sexually dimorphic and seems to be shorter in androgen-action related diseases like hypospadias. In this study we sought to determine whether the AGD is predictive for surgical outcome in hypospadias repair.Material and Methods: Patients were collected prospectively. AGD was measured in OR prior to surgery by 2 surgeons (blinded, each 3 times). Ou...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...