hrp0095p2-162 | Growth and Syndromes | ESPE2022

Long term effect of growth hormone treatment in a patient with growth hormone deficiency and mitochondrial disease due to TMEM70 gene mutation

Ciccone Sara , Lasorella Stefania , Giardinelli Silvia , Tagliaferri Alessandro , Ferri Irene , Fede Ludovica , Canale Noemi

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...

hrp0084p3-900 | Fat | ESPE2015

Predicting Early Cardiovascular Risk in Obese Children Based on Anthropometry

Cipollone Claudia , Piccorossi Alessandra , Antenucci Annarita , Greco Carla , Lasorella Stefania , Farello Giovanni

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

hrp0086p1-p336 | Gonads & DSD P1 | ESPE2016

Polycystic Ovary Syndrome in Adolescence: New Therapeutic Approach with Inositol and Alpha-Lipoic Acid

Torge Nunzia , Iezzi Maria Laura , Varriale Gaia , Farello Giovanni , Basti Claudia , Zagaroli Luca , Lasorella Stefania , Verrotti Alberto

Background: Polycystic Ovary Syndrome (PCOS) is characterized by clinical and/or biochemical hyperandrogenism, oligo-anovulation and/or ultrasound finding of polycystic ovaries. Insulin-resistance represents the etiopathogenetic key of PCOS: a deficit of Inositol’s tissue availability seems to be responsible for this clinical picture. Hyperglycemia resulting insulin-resistance, determines a state of chronic inflammation, which increases oxidative stress.<p class="abst...