hrp0097p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National trends in central precocious puberty, isolated precocious adrenarche and isolated precocious telarche before and during COVID19 pandemic.

Lazarevič Melisa , Knific Taja , Žibert Janez , Šuput Omladič Jasna , Battelino Tadej , Avbelj Stefanija Magdalena

Background: Decreasing age at the onset of puberty is observed worldwide, several countries report also increasing incidence trends of central precocious puberty (CPP), and some observed an importantly higher number of CPP cases during the COVID19 pandemic. Scarce data report also rising trends in isolated precocious adrenarche (IPA) and isolated precocious telarche (IPT).Objectives: To determine the national incidence a...

hrp0095p1-552 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height in children with central precocious puberty – a retrospective study

Knific Taja , Lazarevič Melisa , Žibert Janez , Obolnar Nika , Aleksovska Nataša , Šuput Omladič Jasna , Battelino Tadej , Avbelj Stefanija Magdalena

Background: Central precocious puberty (CPP) is a premature activation of the hypothalamic-pituitary-gonadal axis. One of its negative effects is lower final adult height (FAH) due to premature epiphyseal closure. GnRH analogues act by desensitizing GnRH receptors and stopping the progression of puberty and prolonging growth period.Objectives: We aimed to evaluate the effect of the GnRH analogue on FAH and identify facto...

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...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

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...

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...

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...