ESPE Abstracts

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Background: The adrenal cortex undergoes constant cellular renewal and any effect from recombinant adeno-associated vectors (rAAV) targeting differentiated cells will be transient as extra-chromosomal DNA will be lost by dividing cells. A novel option is to use rAAV to express ectopic adrenocortical enzymes in a stable organ outside the adrenal gland. Our aim was to correct the biochemical phenotype in a mouse model for congenital adrenal hyperplasia (CAH) wit...

Introduction: Adult height in individuals with Congenital Adrenal Hyperplasia (CAH) is reduced compared to the general population as their growth during childhood can be negatively impacted by both the disease and its treatment. Excess production of androgens through aromatization to estrogens can accelerate height velocity and skeletal maturity, and lead to short stature if not adequately suppressed. Over suppression of adrenal steroids through excess glucoco...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Introduction: The production of ischemia-modified albumin (IMA) is associated with the production of reactive oxygen species modifying the metal-binding sites of albumin. IMA is considered a non-specific early biomarker in the evaluation of oxidative stress status. Cortisol is known to trigger anti-inflammatory actions through genomic and non-genomic pathways that eventually lead to decreased production of cytokines, chemokines, and inducible nitric oxide synt...

Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells in small follicles prior to gonadotropin dependent growth and serum levels reflect the number of small antral follicles. There are currently no longitudinal data of individual AMH levels from infancy to adolescence.Aim: To evaluate whether AMH in infancy and childhood is associated with AMH levels and ovarian morphology peripubertal and in adole...

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...