hrp0098p1-5 | Adrenals and HPA Axis 1 | ESPE2024

Evaluation of 2 years second tier testing for the screening on congenital adrenal hyperplasia (CAH)

Olthof Anouk , Bouva Marelle , Claahsen - van der Grinten Hedi , Westra Dineke , Dekkers Eugènie , Heijboer Annemieke , Hannema Sabine , Boelen Anita

Objectives: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is included in the Dutch Newborn Screening (NBS) since 2002. NBS for CAH consists of a 17-hydroxyprogesterone (17-OHP) measurement in dried blood spots (DBS) with gestational age-adjusted cutoffs. Previously, a second heel prick was performed in newborns with inconclusive results to reduce false-positives. In October 2021, 21-deoxycortisol (21-DOCL) was introduced as a s...

hrp0098p3-16 | Adrenals and HPA Axis | ESPE2024

Adrenal insufficiency due to bilateral adrenal haemorrhage in a newborn after suffering perinatal asphyxia: a case report

Alice Manzardo Olimpia , Muehlschlegel Geeske , Hodde Franka , Ritter Marie , Weih Sandra , Van der Werf Natascha , Kamrath Clemens

Background: We describe the case of a male newborn, presenting in our outpatient endocrinological clinic after suffering from a bilateral adrenal haemorrhage in the context of a moderate perinatal asphyxia.Case Presentation: The term male newborn was born spontaneously from breech position after a prolonged labour in a secondary care centre in Freiburg, Germany. Perinatal BGA showed severe metabolic acidosis (pH 6.99, BE...

hrp0089p3-p292 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

MRI Changes in Time after Cranial Irradiation, and their Relation with Pituitary Function in Survivors of Childhood Medulloblastoma

van Ommen CCN , van Iersel L , Lequin MH , Clement SC , Janssens GOR , Boot AM , Caron HN , Claahsen-van der Grinten HL , Granzen B , Han KS , Michiels E M , van Trotsenburg ASP , Vandertop WP , van Vuurden DG , Kremer LCM , Schouten-van Meeteren AYN , van Santen HM

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

hrp0086p1-p31 | Adrenal P1 | ESPE2016

Growth of Children with Congenital Adrenal Hyperplasia (CAH) During the First 2 years of Life – Data from the Duth Longitudinal Registry

Linde Annelieke van der , Roeleveld Nel , vd Akker Erika , van Albada Mirjam , Hannema Sabine , Hoorweg-Nijman Gea , vd Kamp Hetty , Finken Martijn , Odink Roelof , van Trotsenburg Paul , Verkerk Paul , Claahsen Hedi

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...

hrp0098fc7.1 | GH and IGFs | ESPE2024

Clinical characteristics and response to growth hormone treatment in 27 children and adolescents with pathogenic NPR2 variants

S. Renes Judith , M.J. Reedijk Ardine , M.C. Hendriks Yvonne , Bakker Boudewijn , M. Boot Annemieke , A. van Setten Petra , C.M. van der Kaay Daniëlle , C.S. Hokken-Koelega Anita , Losekoot Monique , A. van Duyvenvoorde Hermine , de Bruin Christiaan

Background: The NPR2 gene plays a critical role in the human growth plate. Pathogenic NPR2 variants can result in varying degrees of short stature. The majority of subjects have no specific clinical findings and are likely classified as idiopathic short stature.Objective: To describe the phenotypic spectrum, analyze genotype-phenotype correlations and assess the response and safety of growth hormone (GH...

hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

hrp0092fc13.4 | Adrenals and HP Axis | ESPE2019

Biphasic Glucocorticoid Rhythm in One Month Old Infants: Reflection of a Developing HPA-Axis?

Hollanders Jonneke J. , de Goede Paul , van der Voorn Bibian , Honig Adriaan , Rotteveel Joost , Dolman Koert , Kalsbeek Andries , Finken Martijn J.J.

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

hrp0089rfc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Close Correlation between Salivary and Blood Steroids in Normal Boys: Salivary Testosterone Best Characterizes Male Puberty

Schwab Karl Otfried , Dickhuth Karoline , Mumm Rebekka , Stier Bernhard , Doerfer Juergen , Grueninger Dirk , Brichta Corinna Melanie , van der Werf-Grohmann Natascha , Wurm Michael , Krebs Andreas

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

hrp0082p2-d3-309 | Bone (2) | ESPE2014

Risedronate Use in Duchenne Muscular Dystrophy: a Pilot Randomised Control Trial

Mc Sweeney Niamh , Mc Kenna Malachi , van der Kamp Susan , Kilbane Mark , Mc Donnell Ciara , Murphy Nuala , Webb David , Lynch Bryan

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

hrp0084fc6.1 | Gonads &amp; DSD | ESPE2015

Correlation of AR Expression and AR Transcriptional Activity in Cultured Human Genital Fibroblasts

Hornig Nadine , Rodens Pascal , Ukat Martin , Demiri Jeta , Eckstein Anne Katrin , van der Horst Christof , Seif Christoph , Ammerpohl Ole , Holterhus Paul-Martin

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...