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hrp0082p2-d1-416 | Growth Hormone | ESPE2014

Absence of GH Signaling Induces Hypothalamic Inflammation that is Reversed in Response to a High Fat Diet

Baquedano Eva , Ruiz-Lopez Ana , Pardo-Barquin Elena , Gosney Elahu S , Herpy James , Chowen Julie A , Argente Jesus , Kopchick John J , Frago Laura M

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

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hrp0084ha2 | A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) | ESPE2015

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

Dauber Andrew , Munoz-Calvo Maria T , Barrios Vicente , Desikan Vardhini , Pozo Jesus , Muzumdar Radhika , Martos-Moreno Gabriel A , Hawkins Federico , Domene Horacio , Jasper Hector G , Kloverpris Soren , Yakar Shoshana , Conover Cheryl A , Kopchick John J , Hwa Vivian , Chowen Julie A , Oxvig Claus , Rosenfeld Ron G , Perez-Jurado Luis A , Argente Jesus

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

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ESPE Abstracts

Absence of GH Signaling Induces Hypothalamic Inflammation that is Reversed in Response to a High Fat Diet

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

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