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hrp0084fc14.3 | Puberty | ESPE2015

The New Syndrome of Hypogonadotropic Hypogonadism, Arrythmogenic Right Ventricular Dysplasia, Facial Dysmorphism and Absence of Corpus Callosum is Associated to TAX1 Binding Protein 3 Gene Mutation

Hershkovitz Eli , Arafat Maram , Afawi Zaid , Loewenthal Neta , Haim Alon , Levitas Aviva , Parvari Ruti

Background: A growing list of genes has been implicated in the pathogenesis of congenital hypogonadotropic hypogonadism (HH).Objective and hypotheses: To identify the cause of a unique syndromic HH in a consanguineous Bedouin family.Method: Medical records of the patients were reviewed. Genotyping of the brothers and their parents and whole exome sequencing (WES) were performed.Results: Two brothers presented...

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hrp0095p1-203 | Adrenals and HPA Axis | ESPE2022

P450 oxireductase (POR) regulates blood brain (BBB) maturation by mediating retinoic acid (RA) metabolism in a model of the human BBB

Dor Zlotnik , Tatiana Rabinski , Aviv Halfon , Inbar Plascheks , Hadar Benyamini , Yuval Nevo , Orly Yahalom-Gershoni , Benyamin Rosental , Ayal Ben-Zvi , Gad Vatine , Eli Hershkovitz

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

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hrp0089fc10.6 | Late Breaking | ESPE2018

Primary Ovarian Insufficiency Incidence Rate and ETIOLOGY AMONG ISRAELI ADOLESCENTS between the Years 2000–2016 – A Multi-Center Study

Gruber Noah , Kugler Shir , de Vries Liat , Brener Avivit , Zung Amnon , Eyal Ori , Rachmiel Marianna , Koren Ilana , Tenenbaum-Rakover Yardena , Hershkovitz Eli , Landau Zohar , Oren Meirav , Eliakim Alon , Zangen David , German Alina , Majdoub Hussein , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Yeshayahu Yonatan , Naugolni Larisa , Levy-Shraga Yael , Ben-Ami Michal , Brill Gherta , Levy-Khademi Floris , Avnon-Ziv Carmit , Tiosano Dov , Harel Shira , Kedem Einat , Segev-Becker Anat , Shoenfeld Yehuda , Pinhas-Hamiel Orit

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

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ESPE Abstracts

The New Syndrome of Hypogonadotropic Hypogonadism, Arrythmogenic Right Ventricular Dysplasia, Facial Dysmorphism and Absence of Corpus Callosum is Associated to TAX1 Binding Protein 3 Gene Mutation

P450 oxireductase (POR) regulates blood brain (BBB) maturation by mediating retinoic acid (RA) metabolism in a model of the human BBB

Primary Ovarian Insufficiency Incidence Rate and ETIOLOGY AMONG ISRAELI ADOLESCENTS between the Years 2000–2016 – A Multi-Center Study

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