ESPE Abstracts

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

Introduction: PROKR2 is a 384-amino acid G-protein-coupled receptors (GPCR) that regulates GnRH secretion in the hypothalamus. PROKR2 mutations have been described as cause of a certain percentage of of hypogonadotropic hypogonadism and Kallmann syndrome.In 2017 a heterozygous frameshift gain of function mutation of PROKR2 was identified in a 3.5-year-old girl with central precocious puberty (CPP).The aim of our st...

Background: Young children affected by Type 1 Diabetes (T1D) are prone to glucose fluctuations and hardly reach a stable glycometabolic control, especially when treated with a Multiple Daily Insulin Injections (MDI) scheme. The recent Real-Time Continuous Glucose Monitoring (RT-CGM) System, Dexcom G5, the only available device registered for non-adjunctive insulin intervention, potentially facilitates a better management of the disease. Evidence regarding CGM effectiveness amo...

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

Background: Growth Hormone Insensitivity (GHI) is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and often have midfacial hypoplasia (typical Laron syndrome facial features). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). The inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of...

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...