ESPE Abstracts

Key words: Insulin resistance, triglycerides to high-density lipoprotein cholesterol-(HDL-C), HOMA-IR.Background: Childhood Obesity is a chronic metabolic disease. The fundamental disorder related to obesity is Insulin Resistance (IR). The gold standard method to measure IR is by use the hyper insulinemic euglycemic clamp, rarely performed in children because of its invasiveness, complexity, time consumption and high cos...

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

Background: The hypothalamic–pituitary–adrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....

Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...

Objectives: Data on the role of gluten in type 1 diabetes (T1D) pathogenesis are scarce. We aimed to test whether gluten-free diet (GFD) can decelerate the decline in beta-cell capacity in newly diagnosed non-coeliac T1D children.Methods: Forty six children (aged 10.2±3.3 years) were recruited into this non-randomized self-selected intervention trial: 26 started with GFD, whereas 20 remained on standard diet. Main o...

Introduction: There has been a growing trend in the incidence of autoimmune thyroid diseases (ATD) in the pediatric group of patients. The new aspects of its pathogenesis may contribute to understand innovative methods of prevention and treatment. Regulatory B cells (Breg) allow the maintenance of immune homeostasis by neutralizing the negative reactions of effector cells. Attention has been recently paid also to the new environmental factor like zinc and its ...

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...