ESPE Abstracts

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

Background: We found BOREALIN/CDCA8 mutations in patients with Congenital Hypothyroidism and Thyroid Dysgenesis, varying from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<strong...

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Background and Purpose: Previous studies have shown differences in serum, plasma, or saliva proteomics profile in patients with type 1 diabetes mellitus (T1DM), compared with healthy controls. The purpose of this prospective study is to identify the tear proteomics profile in children with T1DM that are followed at the Diabetes Center of the First Department of Pediatrics of the National and Kapodistrian University of Athens, at “Aghia Sophia” Chil...

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...

Background: Several studies have shown that type 1 diabetes mellitus (T1DM) may contribute to the early onset or acceleration of cognitive impairment (intelligence, psychomotor efficiency, information management speed, visual attention, visual perception and cognitive flexibility). Tear proteomics seems to provide useful information for understanding the molecular mechanisms of various ocular and systemic diseases.Objective and H...