ESPE Abstracts

Background: Type 1 diabetes mellitus (T1DM) is a chronic and demanding disease affecting not only the patient’s life but also the whole family’s perspective. Many studies have explored the effect of T1DM on the emotional and social life of the family; however, a small amount of evidence for the dietary habits of the unaffected members of the family currently exists.Objective and hypotheses: To explore the effects that T1DM has on the dietary ha...

Background: Glucagon stimulation test (GST) is used to assess growth hormone (GH) and cortisol reserves in children being investigated for GH deficiency, as a small percentage of children with idiopathic GH deficiency can also exhibit deficiency in the adrenocorticotrophic hormone (ACTH)-cortisol axis. However, the extent of normal cortisol response after glucagon stimulation and its associations with clinical and laboratory parameters have not been thoroughly...

Background: Primary adrenocortical insufficiency (Addison’s disease) is reported to be five more times frequent in adult patients with type 1 diabetes mellitus (T1DM) than in the general population with a multifactorial aetiology involving autoimmune, inflammatory and metabolic mediators. Recent data indicate that more than half of children with T1DM show subnormal cortisol response. Subnormal cortisol response may impair the metabolic control of patients with T1DM as the...

Background and Hypothesis: Autoimmune thyroid disorders (AITD), including Hashimoto’s Thyroiditis (HT) and Grave’s disease (GD), are known to cluster with other autoimmune disorders (AID). There seem to exist both a pathophysiological basis of immunomodulator genes and epidemiological indications of a higher prevalence of AID including Celiac disease (CeD) in patients with AITD, compared to that in the healthy pediatric population. CeD is asymptomatic in a large prop...

Background: Peak GH level during stimulation tests (STs) stands as an important parameter in growth prediction models and recently it was shown that timing of the peak value in glucagon stimulation test (GST) may be an important indicator of growth hormone deficiency (GHD).Objective and hypotheses: To detect a possible relationship between timing of the peak value of GH during STs and the effectiveness of treatment with rhGH in children with idiopathic G...

Background: The relation between thyroid function and treatment with recombinant human GH (rhGH) has been the subject of many studies which indicate a decrease of fT4 levels and a compensatory TSH increase at rhGH therapy onset. On the other hand, we have identified a number of patients with documented primary hypothyroidism (either on treatment with L-thyroxine or not) before the onset of rhGH treatment.Objective and hypotheses...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in CPP may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: To identify loss-of-...