hrp0092fc13.1 | Adrenals and HP Axis | ESPE2019

Peptide MC2R Antagonists as a New Potential Therapeutic Approach for Congenital Adrenal Hyperplasia

Schubert Tina , Nicke Lennart , Schanze André , Reisch Nicole , Geyer Armin , Koehler Katrin , Huebner Angela

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...

hrp0094p2-411 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rationale for a reduced dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling

Neumann Uta , Stachanow Viktoria , Blankenstein Oliver , Fuhr Uwe , Huisinga Wilhelm , Reisch Nicole , Kloft Charlotte

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...

hrp0094fc1.1 | Adrenal | ESPE2021

Salivary profiles of 11 oxygenated androgens follow a diurnal rhythm in patients with congenital adrenal hyperplasia

Nowotny Hanna F. , Auer Matthias K. , Lottspeich Christian , Schmidt Heinrich , Dubinski Ilja , Bidlingmaier Martin , Adaway Jo , Hawley James , Keevil Brian , Reisch Nicole ,

Background: Routine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17 hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11 oxygenated 19 carbon (11oxC19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen excess in patients with 21-hy...

hrp0097rfc1.6 | Adrenals and HPA Axis | ESPE2023

Interlaboratory comparison of LC-MS/MS measurements of 11 relevant steroid hormones in 27 DSD patients

Kulle Alexandra , Lamprecht Tabea , Caliebe Amke , Blankenstein Oliver , Neumann Uta , Reisch Nicole , Bidlingmaier Martin , Döhnert Ulla , Hiort Olaf , Holterhus Paul-Martin

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

hrp0097p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Transition from Paediatric to Adult Care in Differences of Sex Development (DSD) – Results from the German Network “DSDCare”

Döhnert Ulla , Helge Kathrin-Bettina , Reisch Nicole , Ellerkamp Verena , Kutscheidt Ronja , Kumst Anjo , Roggemann Eleonore , Jürgensen Martina , Balke Thomas , Heidenreich Andreas , Hiort Olaf

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

hrp0097fc1.3 | Adrenals and HPA Axis | ESPE2023

Generation and Characterization of a novel Humanized CYP21A2 Knock-in Mouse Model for Congenital Adrenal Hyperplasia

Huebner Angela , Ramkumar Thirumalasetty Shamini , Schubert Tina , Naumann Ronald , Reichard Ilka , Luise Rohm Marie , Landgraf Dana , Gembardt Florian , F. Hartmann Michaela , A. Wudy Stefan , Peitzsch Mirko , Reisch Nicole , Koehler Katrin

21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP21A2 gene. 21OHD causes a wide array of clinical symptoms that result from gluco- and mineralocorticoid deficiency and adrenal androgen excess. In most cases, supra-physiological glucocorticoid doses are necessary which may cause short stature, obesity, hypertension, cardiovascular and metabolic co-morbidity with reduced quality of lif...

hrp0095fc3.6 | Early Life and Multisystem Endocrinology | ESPE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes

Luisa Priego Zurita Ana , Ali Salma R , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M. , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenström Anna , Patócs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdenek , Taruscio Domenica , Edward Visser W , M Appelman-Dijkstra Natasha , Faisal Ahmed S

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0092p1-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

The Impact of Klinefelter Syndrome on Quality of Life – a Multicentre Study

Franik Sebastian , Fleischer Kathrin , Kortmann Barbara , Stikkelbroek Nike , D'Hauwers Kathleen , In't Hout Joanna , Bouvattier Claire , Slowikowska-Hilczer Jolanta , Grunenwald Solange , van de Grift Tim , Cartault Audrey , Richter-Unruh Annette , Reisch Nicole , Thyen Ute , Claahsen - van der Grinten Hedi

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...

hrp0084wg3.5 | DSD | ESPE2015

EU-Study: DSD-LIFE

Kohler Birgit , Arlt Wiebke , Bouvattier Claire , de la Perriere Aude Brac , Gaye Claire-Lise , Claahsen-van der Grinten Hedi , Cohen-Kettenis Peggy , Nordenstrom Anna , Pienkowski Catherine , Richter-Unruh Annette , Slowikowska-Hilczer Jolanta , Paris Francoise , Szarras-Capnik Maria , Reisch Nicole , Thyen Ute , Wiesemann Claudia

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...