ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

Introduction: Childhood obesity is known to be associated with an increased risk of cardiovascular and metabolic complications in adulthood.Objectives: To evaluate precocious cardiovascular sonographic modifications in a cohort of overweight (OW) and obese (OB) children and adolescents brought to Outpatient Clinic of Pediatric Endocrinology for first evaluation, compared with normal weight controls. 2) To investigate the association between clinical and ...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...