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59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

Young Investigators

Young Investigators

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...

hrp0094yi1.2 | Young Investigators | ESPE2021

Early life events and postnatal effects from infancy to childhood

Chiavaroli Valentina ,

Early life events can profoundly affect an individual’s metabolic phenotype, inducing adaptive responses that may be protective in utero but potentially disadvantageous for long-term health. Indeed, environmental cues during sensitive windows of development may result in altered growth and lead to an increased risk of cardiovascular and metabolic alterations later in life. In this talk, I will discuss several models of exposure to early life events, which were th...

hrp0094yi1.3 | Young Investigators | ESPE2021

Genetics and endocrine phenotypes of the MEHMO syndrome

Stanik Juraj ,

Introduction: Monogenic obesity is a heterogeneous group of rare conditions involving less than 5% of the children with obesity. The most common subtypes of monogenic obesity are mutations of the genes MC4R, SIM1, and PCSK1. Rare monogenic obesity forms include also MEHMO syndrome. MEHMO is an X-linked condition characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. In our studies we ha...

hrp0094yi1.4 | Young Investigators | ESPE2021

Abstract unavailable...

hrp0094yi1.5 | Young Investigators | ESPE2021

Vegf-A mRNA transfection to improve islet graft revascularization

Staels Willem ,

Diabetes mellitus is a pandemic metabolic disorder characterized by chronic hyperglycemia. The pathogenic process is the result of insulin insufficiency. Insulin is a peptide hormone produced in the beta cells of the pancreatic islets. Current diabetes treatments strive for glycemic control but fail to solve the underlying beta cell defect. This approach has increased the life expectancy and quality of most patients with diabetes but has turned diabetes into a chronic disease....