hrp0095fc4.5 | Fat, Metabolism and Obesity | ESPE2022

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

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...

hrp0095fc4.6 | Fat, Metabolism and Obesity | ESPE2022

Influence of growth hormone status and glucose metabolism on hs-Troponin T and NT-proBNP levels in a cohort of healthy children (The LIFE child study)

Kiess Alexandra , Kiess Wieland , Vogel Mandy

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...

hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

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 ...

hrp0095fc5.2 | Adrenals and HPA Axis | ESPE2022

Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency

Patjamontri Supitcha , Lucas-Herald Angela , McMillan Martin , Prasad Rathi , Metherell Louise , McGowan Ruth , Tobias Edward , Faisal Ahmed S.

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...

hrp0095fc5.3 | Adrenals and HPA Axis | ESPE2022

The liver as a site for rAAV-induced ectopic adrenocortical enzyme expression

Graves Lara , Koyyalamudi Sundar , Wotton Tiffany , Srinivasan Shubha , Ginn Samantha , Alexander Ian

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...

hrp0095fc5.4 | Adrenals and HPA Axis | ESPE2022

Reference Growth Charts in Children with Congenital Adrenal Hyperplasia

Sarafoglou Kyriakie , Miller Bradley , Munoz Yesica , Jaber Mu'taz , Yaw Addo O.

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...

hrp0095fc5.5 | Adrenals and HPA Axis | ESPE2022

Influence of prenatal environment and genetic background on glucocorticoid steroid metabolism in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Schreiner Felix , Plamper Michaela , Kasner Charlotte , Gruenewald Mathias , Bartmann Bartmann Peter , Fimmers Rolf , Hartmann Michaela F. , Wudy Stefan A. , Woelfle Joachim , Gohlke Bettina

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:...

hrp0095fc5.6 | Adrenals and HPA Axis | ESPE2022

ACTH Stimulation Decreases Ischemia-Modified Albumin Levels In Vivo

Muratoglu Sahin Nursel , Esen Senem , Savas Erdeve Senay , Budak Fatma , Neselioglu Salim , Erel Ozcan , Cetinkaya Semra

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...

hrp0095fc6.1 | Sex Development and Gonads | ESPE2022

AMH levels in infancy and mid-childhood predict ovarian activity in adolescence: a longitudinal study of healthy girls

Bistrup Fischer Margit , Hagen Casper P. , Wohlfahrt-Veje Christine , Assens Maria , Busch Alexander S. , Tønnes Petersen Anette , Juul Anders , Main Katharina M.

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...

hrp0095fc6.2 | Sex Development and Gonads | ESPE2022

Predictive value of ovarian reserve parameters for follicle detection in ovarian tissue cryopreservation

Gruber Noah , Zajicek Michal , Volodarsky-Perel Alexander , Shai Daniel , Dick-Necula Daniela , Raanani Hila , Karplus Gideon , Kassif Eran , Weisz Boaz , Meirow Dror

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...