hrp0097p1-56 | Fat, Metabolism and Obesity | ESPE2023
Maria Merz Lea
, Kallendrusch Sonja
, Winter Karsten
, Klöting Nora
, Krause Kerstin
, Le Duc Diana
, Kiess Wieland
, Garten Antje
Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...