ESPE Abstracts

Objective: To explore the long-term effect of adjuvant treatment vin classic CAH 21OHD.Methods: Clinical datas of 21OHD children with impaired growth potential (HtSDSBA<-2) from the endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. Patients with adjuvant treatment were divided into different groups according to bone age (BA) an...

Background: Synthetic glucocorticoid (GC) form crucial first-line treatment for childhood acute lymphoblastic leukemia (ALL). However, some patients reveal GC resistance with unknown mechanism. We have previously shown that reciprocal regulation of the GC metabolizing enzymes, 11beta-hydroxysteroid dehydrogenase types 1 and 2 (11b-HSD1 and 11b-HSD2) is associated with GC sensitivity/resistance in ALL at diagnosis. 11b-HSD1 predominantly regenerates active GC f...

Introduction: The diagnosis of arginine vasopressin deficiency (AVD, formerly central diabetes insipidus) remains a challenge. Timely and accurate differentiation between AVD and primary polydipsia (PP) is pivotal for effective management. In recent years, stimulated copeptin has emerged as a promising tool to diagnose AVD.Methods: In this single centre retrospective study, we identified paediatric patients with suspecte...

Background: Timely reperfusion of ischaemic tissue is prerequisite to improve outcomes of CVD, but paradoxically reperfusion causes injury to tissues. This concept is referred to as ischaemia-reperfusion (IR) injury. Studies are thriving to better understand IR injury and develop novel treatments to minimise this. One such approach is termed ischaemic preconditioning (IPC) which entails brief periods of alternating ischaemia and reperfusion prior to t...

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...

Background: The International Congenital Adrenal Hyperplasia (CAH) Registry provides rich longitudinal data from CAH patients with 21 Hydroxylase deficiency. We estimated the average total causal effect of fludrocortisone on blood pressure in patients with CAH by modelling within a causal inference framework.Methods: We constructed a directed acyclic graph (DAG) with domain experts (using Dagitty.net) to establi...

Background: Alterations in blood pressure in treated CAH due to 21 hydroxylase deficiency is contentious, with studies reporting different effects. We used data from young adults entered into the I-CAH registry to assess the change in blood pressure readings recorded within patients over time.Methods: We used longitudinal mixed effects modelling (LMEM) in R to account for repeated measures in two levels within patients a...

Introduction: Patients with Congenital adrenal hyperplasia (CAH) have increased prevalence of obesity and metabolic problems. The underlining mechanisms are not clearly known. Adipokines are likely involved in this association, however, their role in it is not completely understood.Objective: We studied adiponectin and leptin in children and young persons with CAH, in relation to their body mass, treatment, hormonal and ...

Background: Late identification of male patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency (21OHD) can increase the risk of developing a benign tumor near the mediastinum testes called testicular adrenal rest tumors (TART), that can cause infertility. However, these long-term consequences of 21OHD have not yet been studied in Indonesia.Objective: This study aims to elucidate the prevalenc...