ESPE Abstracts

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

Keywords: Ulnar-mammary syndrome; TBX3 gene; Hypogonadotropic hypogonadism; Skeletal anomalies, PolydactylyBackground: Hypogonadotropic hypogonadism (HH) is an increasingly frequent medical condition deriving from a dysregulation of the hypothalamic-pituitary-gonadal axis function, which leads to low sex hormone levels associated with low gonadotropin levels. It can be congenital or acquired. Congenital HH, whose inciden...

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

Background: Asprosin is an adipokine involved in glucose homeostasis and its plasma levels physiologically increases in fasting conditions and decreases with refeeding. In non-diabetic children and adolescents with obesity, insulin resistance (IR) and impaired fasting glucose (IFG) seem to influence the physiological variation in meal-related asprosin levels 120 minutes after an oral glucose load (Corica et al. doi:10.3389/fendo.2021.805700). No data ...

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...