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...

hrp0089rfc9.2 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Novel Variant in GNRHR Gene Regulatory Region in a Pedigree with Maternally Inherited Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

hrp0089p3-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Case Report: A Girl with 46,XY Karyotype and Disorder of Androgen Synthesis

Šuput Omladič Jasna , Bertok Sara , Žerjav Tanšek Mojca , Kovač Jernej , Battelino Tadej , Hartmann Michaela F. , Wudy Stefan A , Avbelj Stefanija Magdalena

Background: Disorders of androgen synthesis are rare causes of 46,XY disorder of sex development (DSD) that present with undervirilization or sex reversal.Objective: A history of a female adolescent with 46,XY DSD, initially suspected to have complete androgen insensitivity is presented.Methods: Patient history was obtained from the medical records. Urinary steroid profile was preformed using gas chromatography/mass spectrometry. T...

hrp0089p2-p309 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

MKRN3 Gene Mutations in a Cohort of Patients with Central Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Jančevska Aleksandra , Zdravković Vera , Jesić Maja , Vuković Rade , Stanković Sandra , Todorović Sladana , Hovnik Tinka , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

hrp0094yi1.1 | Young Investigators | ESPE2021

Identification of novel genetic causes of familial central precocious puberty

Avbelj Stefanija Magdalena , Kovač Jernej , Gat-Yablonski Galia , Novak Eva , Hovnik Tinka , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Vuković Rade , Todorović Slađana , Jančevska Aleksandra , Zdravković Vera , Jesič Maja , Stanković Sandra , Phillip Moshe , Battelino Tadej , de Vries Liat

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...