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...

hrp0086fc13.1 | Management of Obesity | ESPE2016

Quantitative Proteomic of Rat Livers Shows a Major Reprogramming of Mitochondrial Enzymes in Food-Restriction and Increased Stress Hallmarks in Ad Libitum Feeding

Gat-Yablonski Galia , Finka Andrija , Pinto Galit , Quadroni Manfredo , Shtaif Biana , Goloubinoff Pierre

Background: Studies in young mammals on the qualitative and quantitative molecular effects of food restriction (RES) and re-feeding, leading to catch up growth (CU) are scarce. Whereas RES may lead to growth and developmental deficits in children, it is a proven treatment to prolong life in all animals checked.Objective and hypotheses: We used MS analysis to understand how RES might lead to growth attenuation and prolonged life span and identify the majo...

hrp0082p1-d1-135 | Growth | ESPE2014

The Association Between Adipocytes and Growth is Mediated by Growth and Differentiation Factor 5

Shtaif Biana , Dror Nitzan , Bar-Maisels Meytal , Phillip Moshe , Gat-Yablonski Galia

Background: The association between nutrition and growth is common knowledge but the mechanism is still unelucidated. Several reported cases in the literature describe growth without GH, that in most cases were associated with obesity, suggesting, that the adipocytes might have a role in regulating linear growth.Objective and hypotheses: The aim of the study was to search for a skeletal growth factor that is secreted by adipocytes....

hrp0084p3-1026 | Growth | ESPE2015

Fasting and Post-Meal Levels of Appetite Regulating Hormones, before and Following GH Treatment, in Children with Idiopathic Short Stature

Yackobovitch-Gavan Michal , Gat-Yablonski Galia , Shtaif Biana , Phillip Moshe , Lazar Liora

Background: Poor appetite is common in children with idiopathic short stature (ISS), and is usually improved with GH therapy.Objective and hypotheses: To investigate the effect of GH therapy on appetite regulating hormones following a standard meal test (SMT) and to examine the association between these changes and growth response, body composition and resting energy expenditure (REE).Method: Nine ISS pre-pubertal children underwen...

hrp0094p2-80 | Bone, growth plate and mineral metabolism | ESPE2021

Effect of Soy and Whey on growth pattern in young male Sprague-Dawley rats

Bar-Maisels Meytal , Menahem Chen , Shtaif Biana , Gabet Yankel , Bab Sahar , Phillip Moshe , Gat-Yablonski Galia ,

Background and Aims: The most effective environmental factor that affect longitudinal growth is nutrition, but the exact composition and the relative benefits of specific dietary proteins in supporting linear growth is unknown. In the current study, we compared the effect of whey and soy proteins on linear growth and bone strength in young fast growing male rats. Both proteins contain all essential amino acids and are considered the best proteins in their cate...

hrp0094p1-59 | Bone B | ESPE2021

Cartilage -specific knockout of SIRT1 significantly reduces bone quality and catch-up growth efficiency

Shtaif Biana , Bar-Maisels Meytal , Gabet Yankel , Hiram-Bab Sahar , Yackobovitch-Gavan Michal , Phillip Moshe , Gat-Yablonski Galia ,

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

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...

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...