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,...