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...

hrp0095p2-70 | Diabetes and Insulin | ESPE2022

Familial Genetic Syndrome of Severe Insulin Resistance and Hyperandrogenemia in a young girl with Polycystic Ovary Morphology

Patriciu Zubascu Gheorghita , Florina Predescu Andrada , Maria Stancu Ana , Tarna Mihaela , Nicoleta Cima Luminita , Alnuaimi Osama , Tincuta Petca Aida , Plaiasu Vasilica , Fica Simona , plate and mineral metabolism growth

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

hrp0084p3-1015 | Growth | ESPE2015

Reversible GH Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Sani Ilaria , Bruzzi Patrizia , Albanese Assunta

Background: 12 cases of neurofibromatosis type 1 (NF-1) children with optic pathway glioma (OPG) and GH excess (GHE) are reported to-date. The aetiology of GHE is unknown. We describe two NF-1 girls and OPG with reversible GHE. The diagnosis of GHE was established from auxological data, high IGF1 and lack of GH suppression during an oral glucose tolerance test (OGTT). Our aim is to increase awareness of GHE in NF-1 children with OPG and help its management.<p class="abstex...

hrp0092p1-37 | Diabetes and Insulin | ESPE2019

Association of Maternal Depressive Symptoms with Worse Metabolic Control in Adolescents with Type 1 Diabetes

Von Borries Denise , Perez Viviana , Jorge Garcia Hernan , Rumie Karime , Astudillo Patricio , Garcia Hernan

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0095p1-98 | GH and IGFs | ESPE2022

Supporting the mental wellbeing of caregivers of children under growth hormone treatment: mix-methods evaluation of the Adhera® Caring Program.

de Arriba Antonio , Fernandez-Luque Luis , Alice Chicchi Giglioli Irene , Luis González-Sanz Pedro , Vara Marta , Morte Patricia , Hors-Fraile Santiago

Background: The emotional distress of caregivers (i.e., parents) of children with long-term conditions affects their self-management behaviors, including treatment adherence. These conditions are diverse and prevalent, including diabetes, obesity, and growth hormone disorders (GHD). The caregivers’ emotional well-being is then a core aspect of their own quality of life, and their children’s. Emerging digital therapeutics solutions may improve such ...

hrp0095p2-51 | Diabetes and Insulin | ESPE2022

Effect of combined hormonal contraceptives use in telomere length and metabolic profile in young women with T1D

Giraudo Franco , Lardone Cecilia , Castro Andrea , López Patricia , Iñiguez Germán , Merino Paulina , Salinas Abril , Cassorla Fernando , Codner Ethel

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 &pm; 3.3 years) and C (n:22, age 20.2 &pm; 3 years) u...

hrp0092fc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

New Imaging Approaches to the Quantification of Musculoskeletal Alterations in X-Linked Hypophosphatemic Rickets (XLH)

Raimann Adalbert , Mehany Sarah N. , Feil Patricia , Weber Michael , Pietschmann Peter , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

hrp0092fc14.1 | GH and IGF1 | ESPE2019

Inhibition of IGF1R by IGF1R/IR Inhibitor OSI906 as a Targeted Therapy for Glioblastoma: in vitro & in vivo Studies

Fernandez Maria Celia , Martin Ayelen , Clément Florencia , Venara Marcela , Fernanda Castro Julia , Lombardi Mercedes Garcia , Bergadá Ignacio , Pennisi Patricia

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

hrp0092fc14.3 | GH and IGF3 | ESPE2019

PAPP-A2 Deficiency Induces Sex-Specific Changes in Hydroxyapatite-(CaOH) Crystallinity and the Effects of IGF-1 on Bone Composition in Adult Mice

Vargas Antonio , Rubio Leticia , Rivera Patricia , Christians Julian , de Fonseca Fernando Rodríguez , Chowen Julie , Suárez Juan , Argente Jesús

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...