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...

hrp0084p2-543 | Puberty | ESPE2015

The Endocrine Response to a Gonadotropin Releasing Hormone (GnRH) Test: Establishing a Reference Interval in Healthy Girls below 6 Years of Age

Vestergaard Esben , Somod Mia , Kamperis Kostas , Kastberg Karin , Rittig Soren , Kristensen Kurt , Birkebaek Niels

Background: Premature thelarche and precocious puberty are frequently diagnosed even in girls below 6 years of age. A GnRH test is often included in the diagnostic work up. Interpretation of the GnRH test in girls below 6 years of age is, however, difficult, because the reference interval has not been established in this age group.Objective and hypotheses: To establish the normal endocrine response to a GnRH test in healthy girls below 6 years of age.</p...

hrp0086p1-p110 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Increase in Sclerostin After Rapid Weight Loss in Children

Birkebaek Niels H , Frystyk Jan , Lange Aksel , Holland-Fischer Peter , Kristensen Kurt , Rittig Soren , Vilstrup Henrik , Henning Gronbaek

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

hrp0097rfc9.1 | Diabetes and insulin 2 | ESPE2023

The association of dietary glycemic index and load with insulin sensitivity and secretion from early childhood to late adolescence: the QUALITY cohort

Cattrysse Pascaline , Harnois-Leblanc Soren , Sallah Drammeh Pa , Drapeau Vicky , A. Barnett Tracie , Mathieu Marie-Ève , Suissa Karine , Benedetti Andrea , Henderson Mélanie

Introduction: With the increasing prevalence of obesity, prediabetes and type 2 diabetes (T2D) in youth are on the rise. Prevention is paramount for these multifactorial diseases. Dietary interventions targeting a reduction of dietary glycemic index (GI) and glycemic load (GL) are potential strategies for improving insulin resistance. However, the association between GI and GL and T2D risk in children remains uncertain.Objectives...

hrp0094fc4.1 | Diabetes | ESPE2021

Role of physical activity and sedentary behavior on early markers of cardiovascular disease in Canadian adolescents with and without type 1 diabetes: the CARDEA study

Harnois-Leblanc Soren , McNealis Vanessa , Friedrich Matthias G , Hulst AndraeaVan , Nuyt Anne-Monique , Bigras Jean-Luc , Barnett Tracie A. , Benedetti Andrea , Mathieu Marie-Eve , Drapeau Vicky , Sylvestre Marie-Pierre , Henderson Melanie ,

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...