ESPE Abstracts

Background: Over the recent years there have been more and more cases with DM type 1 and thyroid autoimmune diseases.Objective: To study course of autoimmune thyroiditis in children and adolescents with DM type 1.Methods: From 758 children with DM type 1 we identified high risk cohort (thyroid gland palpation and clinical symptoms) and performed thyroid US and TSH, fT4, anti-TPO, anti-TG, and HbA1c testing. Cohort group,...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

Background: Diabetic autonomic neuropathy (DAN) is predictive for subsequent mortality mainly due to terminal renal insufficiency. DAN is screened by cardiac tests based on heart rate variability (HRV).Aim: To assess cardiac autonomic neuropathy (CAN) and its predictive value for survival in children with Mauriac syndrome.Material and methods: The study included 12 patients with Mauriac syndrome (growth retardation, hepatomegaly an...

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition characterised by adrenal insufficiency and a life-long risk of adrenal crises. There is a paucity of information on the epidemiology of acute adverse events in this population.Objective: To investigate the frequency, aetiology and consequences of acute adverse events attributed to adrenal insufficiency in CAH.Methods</stro...