hrp0095p1-522 | Growth and Syndromes | ESPE2022

Positive impact of the TuiTek® patient support programme on caregivers of patients receiving treatment for growth hormone deficiency in Argentina

Sordelli Micaela , Debicki Matías , Gonzalez Judit , María Sosa Ana , Hernán Cejas Leopoldo , Ginaca Romina , Jheeta Amrit , Malik Sumaira , Koledova Ekaterina , Assefi Aria

Background: Good adherence to recombinant human growth hormone (r-hGH) is crucial to achieve optimal growth outcomes in children with GH deficiency (GHD). Controlling factors that negatively impact adherence is difficult in clinical practice. In order to obtain a better understanding of caregiver behaviour, an Argentinian patient support programme (PSP) implemented TuiTek®, a personalised programme comprising behavioural change training, call guides...

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 ± 3.3 years) and C (n:22, age 20.2 ± 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) ...

hrp0092fc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Analysis of Hypothalamic Metabolic Circuits after Normalization of Body Weight in Mice That Had Been Obese Due to High Fat Diet Intake

Guerra-Cantera Santiago , Frago Laura , Ros Purificación , Canelles Sandra , Díaz Francisca , Freire-Regatillo Alejandra , Torrecilla-Parra Marta Marta , Argente Jesús , Chowen Julie A.

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

hrp0092fc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Peripheral and Hypothalamic Alterations in the Insulin-like Growth Factor (IGF) System in Response to High Fat Diet-induced Weight Gain

Guerra-Cantera Santiago , Díaz Francisca , Ros Purificación , Freire-Regatillo Alejandra , Torrecilla-Parra Marta , Barrios Vicente , Frago Laura , Chowen Julie A. , Argente Jesús

The insulin-like growth factor (IGF) system is fundamental for physiological processes such as growth and metabolism. In addition, in the brain it regulates glucose metabolism and neuroprotection. The IGF axis can be altered by nutritional status, but little is known regarding the effects of specific dietary components on this system.Our aim was to examine how high-fat diet (HFD) and low-fat/high sucrose diet (LFHSD) intake affect the central and circula...

hrp0092rfc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Age-Specific Reference Values for Plasma FT4 and TSH Concentrations in Healthy, Term Neonates at Day Three to Seven, and 13 to 15 of Life

Naafs J.C. , Heinen C.A. , Zwaveling-Soonawala N. , van der Schoor S.R.D. , Tellingen V. van , Heijboer A.C. , Fliers E. , Boelen A. , van Trotsenburg A.S.P.

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

hrp0092rfc14.1 | Adrenals and HP Axis | ESPE2019

PAPP-A2 Deficiency Results in Sex-Dependent Modifications in Hypothalamic Regulation of Energy Homeostasis

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

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

hrp0092p1-33 | Diabetes and Insulin | ESPE2019

Plasma Tocopherols and Carotenes are Decreased in Spanish Children and Adolescents with Insulin Resistance, Independently of Obesity

Rupérez Azahara I. , Lozano Gloria Bueno , Leis Rosaura , Gil-Campos Mercedes , Gil Ángel , Moreno Luis A. , Mesa María D. , Aguilera Concepción M.

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...

hrp0092p1-179 | Diabetes and Insulin (1) | ESPE2019

Longitudinal Metabolic Control After Initiation of Insulin Pump in 5,040 Pediatric Type-1-Diabetes Subjects – Heterogeneous HbA1c Trajectories Over Three Years from the DPV Registry

Prinz Nicole , Schwandt Anke , Becker Marianne , Biester Torben , Hess Melanie , Holder Martin , Karges Beate , Näke Andrea , von Sengbusch Simone , Tauschmann Martin , Holl Reinhard W.

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

hrp0092p1-245 | Multisystem Endocrine Disorders | ESPE2019

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Manyas Hayrullah , Çatli Gönül , Eroglu Filibeli Berna , Ayranci Ilkay , Özdemir Taha Resid , Dündar Bumin Nuri

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...