ESPE Abstracts

Background: Prenatal dexamethasone (DEX) treatment is in many countries offered to the pregnant woman, at risk of having a child with classic congenital adrenal hyperplasia (CAH), to reduce virilization in an affected female fetus. The treatment is effective in reducing virilization but may give long lasting effects on somatic and cognitive health. Here, we explore the potential effect on metabolism in children and adults not having CAH and exposed to DEX during the first trim...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported bot...

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

Introduction: Insulin pump service has changed the outlook of diabetes management in children with diabetes. Studies have shown that better metabolic control is achievable even in patients with poor adherence to medical management. NICE in UK recommends the use of insulin pump for children with poor metabolic control, disabling hypoglycaemia and also when facing challenges with MDI insulin use. National Paediatric Diabetes Audit (NPDA) reports helps to measure our clinical per...

Introduction: The main problem of contemporary diabetology is to prevent chronic complications of carbohydrate metabolism disorders according to DM1 and obesity (pre-disposing for DM2). The task is to find simple tools that allow rapid identification of vascular lesions and early treatment intervention.Aim of the study: The aim of the study was to evaluate parameters of CBP in patients with DM1 and obesityMaterials and methods: The...

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a disorder with autosomal dominant inheritance pattern. It is characterized by the occurance of parathyroid, pituitary and pancreatic tumors. MEN1 presented by insulinoma as first presentation in children is very rare. On the other hand insulinoma affects 10% patients with MEN1 and occurs usually in young patients.Case: Eleven years and eight months old girl was admitted, after a syncopal episode ...

Introduction: Human ovary is commonly the target of an autoimmune attack in cases of organ- or non-organ-specific autoimmune disorders. Hashimoto’s thyroiditis (HT) is likely to be associated with ovarian dysfunction and diminished ovarian reserve. The classical hormonal test assessing ovarian reserve as early follicular phase serum levels of FSH, inhibin B and estradiol (E2), which are interdependent, and the calculation of the number of antral follicles by transvaginal ...

Background: In female patients with cystic fibrosis (CF), female sex predisposes to the progression and worsening of lung function, which increases the incidence of acute exacerbations, and leads to the earlier bacterial colonization of Pseudomonas aeruginosa. The negative effect of estrogens on the clinical course of CF in girls begins to manifest with the onset of puberty and the appearance of secondary sexual characteristics. On the cellular-level estrogens affect: 1.) immu...

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...