hrp0095p2-147 | GH and IGFs | ESPE2022

Perception of long-acting growth hormone- data from two surveys in Austria

Belic Jelena , Riedl Stefan , Windisch Manfred

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...

hrp0095p1-369 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Prevalence of Overweight and Obesity in a Transgender Youth Cohort

Knaus Sarah , Steininger Johanna , Häusler Gabriele , Riedl Stefan

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...

hrp0097p1-469 | Fat, Metabolism and Obesity | ESPE2023

Compound heterozygous SLC5A2-Mutation leading to familial renal glucosuria in an 11-year-old boy

Habacht Daniela , Zeitlhofer Petra , Hammer Karin , Haas Oskar , Riedl Stefan

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....

hrp0097p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gender-Dysphoric Austrian Youth Seeking Gender Affirming Hormonal Therapy: Baseline Somatic and Psychosocial Health, Gender Affirming Treatment Trajectories and Fertility Preservation Rates

Steininger Johanna , Knaus Sarah , Kaufmann Ulrike , Riedl Stefan

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...

hrp0092p2-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Anogenital Distance Predict Outcome of Hypospadias Repair?

Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Metzelder Martin , Hebenstreit Doris

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...

hrp0089p1-p008 | Adrenals and HPA Axis P1 | ESPE2018

Impact of Puberty on Final Height in Children and Adolescents with Congenital Adrenal Hyperplasia (CAH)

Rohayem Julia , Schreiner Felix , Riedl Stefan , Voss Egbert , Wolf Johannes , Grasemann Corinna , Fink Katharina , Mohnicke Klaus

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...

hrp0082p1-d2-1 | Adrenals &amp; HP Axis | ESPE2014

Allelic Frequencies of CYP21A2 Variants and Genotype–Phenotype Correlations in a Cohort of 660 CAH Patients from Germany and Austria*

Riedl Stefan , Rohl Friedrich-Wilhelm , Empting Susann , Bonfig Walter , Dorr Helmuth-Gunther , Holl Reinhard , Mohnike Klaus

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...

hrp0082p2-d2-297 | Bone (1) | ESPE2014

Severe Heterotopic Ossifications in a 10-year-old Boy with PHP1a

Raimann Adalbert , Alexandra Ertl Diana , Riedl Stefan , Schlegel Werner , Haeusler Gabriele

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 ...

hrp0094p2-429 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

4-year-old female patient with mixed germ cell tumor and underlying Cowden syndrome

Habacht Daniela , Boztug Heidrun , Engstler Gernot , Kager Leo , Boztug Kaan , Pauer Sophie , Amann Gabriele , Zeitlhofer Petra , Riedl Stefan

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...

hrp0092p1-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Urological and Psychosexual Outcome of Men Born with Hypospadias

Tack Lloyd , Van Hoecke Eline , Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Weninger Julia , Hiess Manuela , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

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...