hrp0086p1-p917 | Thyroid P1 | ESPE2016

Hypercholesterolemia in Two Siblings with THRB Mutation

Jakic Maja , Groselj Urh , Stefanija Magdalena Avbelj , Tansek Mojca Zerjav , Podkrajsek Katarina Trebusak , Battelino Tadej

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....

hrp0097p1-261 | Fat, Metabolism and Obesity | ESPE2023

Decreased physical fitness in children is associated with increased cardiovascular risk determined by increased carotid intima-media thickness

Drole Torkar Ana , Plesnik Emil , Dovc Klemen , Jazbinsek Soncka , Mlinaric Matej , Groselj Urh , Battelino Tadej , Starc Grogor , Kotnik Primoz

Background: Early vascular aging is driven by modifiable lifestyle risk factors, including physical inactivity. Early identification of children at risk of atherosclerosis (AS) is needed for implementing primary preventive measures addressing vascular health. The aim of the study was to determine the association between objectively determined physical fitness (PF) and carotid intima-media thickness (cIMT), used as a reliable noninvasive biomarker of AS in a po...

hrp0095p1-16 | Adrenals and HPA Axis | ESPE2022

Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiency

Kotnik Primoz , Krasovec Tjasa , Sikonja Jaka , Zerjav Tansek Mojca , Debeljak Marusa , Ilovar Sasa , Trebusak Podkrajsek Katarina , Bertok Sara , Tesovnik Tine , Kovac Jernej , Suput Omladic Jasna , F Hartmann Michaela , A Wudy Stefan , Avbelj Stefanija Magdalena , Battelino Tadej , Groselj Urh

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...