hrp0086p2-p534 | Fat Metabolism and Obesity P2 | ESPE2016

Value of BMI-SDS, Waist Circumference-SDS and Waist-to-Height Ratio in the Identification of Obese Children and Adolescents at an Increased Risk for Cardio-Metabolic Complications

Kovac Jernej , Pavlic Petra , Perdih Brigita , Kotnik Primoz

Background: Determination of obese children/adolescents at an increased risk of cardio-metabolic complications is of paramount significance for early intervention.Objective and hypotheses: To determine the value of simple anthropometric measures of obesity (BMI-SDS, waist circumference (WC)-SDS, waist-to-height ratio (WHR)) in the determination of individuals at an increased risk for selected cardio-metabolic complications (impaired glucose metabolism, d...

hrp0086p1-p729 | Pituitary and Neuroendocrinology P1 | ESPE2016

Clinical and Mutational Spectrum in Slovenian Patients with Hypogonadotropic Hypogonadism

Stefanija Magdalena Avbelj , Obreza Tamara , Pfeifer Marija , Kovac Jernej , Battelino Tadej , Podkrajsek Katarina Trebusak

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

hrp0092t12 | Top 20 Poster | ESPE2019

The First Description of Large Pathogenic Deletion in ACAN Gene and Additional Cases with Novel Pathogenic ACAN Variants

Stavber Lana , Hovnik Tinka , Avbelj Stefanija Magdalena , Kotnik Primož , Bertok Sara , Lovrečic Luca , Kovac Jernej , Battelino Tadej

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

hrp0092p1-109 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A NCOA5 Gene Variant in A Pedigree With Maternally Inherited Precocious Puberty

Stefanija Magdalena Avbelj , Kovac Jernej , Gat-Yablonski Galia , Bratina Nataša , Omladič Jasna Šuput , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

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...