hrp0084p3-863 | Fat | ESPE2015

Metabolic Syndrome Risk Factors in Obese Children and Adolescents

Azimova Shahnoza , Rakhimova Gulnora

Objective and hypotheses: The work was initiated to perform integral assessment of metabolic syndrome (MS) risk factors in obese children and adolescents.Method: We examined Uzbek 100 children and adolescents with exogenous-constitutional obesity (ECO) aged from 6 to 16 years (mean age 11.7±0.25); 54 (54.0%) boys and 46 (46.0%) girls among them. To develop prediction scale we used a modification of Bayesian probability, method for standardization of...

hrp0095p1-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effects of Pharmacological Inhibition of BCL-2 on Linear Bone Growth

Velentza Lilly , Wickström Malin , Kogner Per , Zaman Farasat , Sävendahl Lars

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

hrp0086rfc15.1 | Late Breaking | ESPE2016

A Novel Homozygous Mutation in the Domain AF-2 of Alpha Estrogen Receptor Gene (ESR1), Generating a Bio-Inactive ERα Mutant, Resulting in Estrogen Resistance with Complex Metabolic Phenotype

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguyer Patrick , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Context: The mouse ERα−/− knock-out model and rare human ESR1 gene mutations identified to date have demonstrated crucial role of ERα in control of energy homeostasis and glucose metabolism. Subjects with ERα deficiency show features of estrogen resistance (ESTRR) with continuous linear growth in adulthood.Patient: We describe a 20-year-old female, with unknown family history, who presented...

hrp0089rfc11.6 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Reference Values of Automated Bone Age and Bone Health Index for Mexican Children and Adolescents

Lora America Liliana Miranda , Espindola Montserrat Espinosa , Gonzalez Desiree Lopez , Loyo Mariana Sanchez-Curiel , Suarez Pilar Dies , Klunder Miguel Klunder

Background: BoneXpert is a software for automated measurement of bone age (BA) and radiogrammetry (bone health index). The precision error of the software for BA measure is smaller than the human rating error and the accuracy relative to the human routine ratings is 0.80 years. Differences in skeletal maturation between ethnicities have been reported, so it is important to have specific references for the own population.Objective: To present the automate...

hrp0086p1-p111 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Conventional Medical Treatment on Bone Mineral Density and Bone Turnover in Adult XLH Patients: A 6 Year Cohort Study

Shanbhogue Vikram Vinod , Beck-Nielsen Signe Sparre

Background: X-linked hypophosphatemia (XLH) are rare, inheritable disorders caused by excessive renal phosphate wasting manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, where it heals rickets and rescues some of the growth potential prior to fusion of the growth plates, it is controversial whether adults should continue therapy. There is little evidence for the ...

hrp0095p1-442 | Diabetes and Insulin | ESPE2022

A Continuous Quality Improvement Effort Implemented by The Italian Network of Pediatric Diabetes Clinics

Zucchini Stefano , Bonfanti Riccardo , Lombardo Fortunato , Nicolucci Antonio , Rabbone Ivana , Schiaffini Riccardo , Vespasiani Giacomo

Pediatric diabetes management extends beyond glycemic control. A gap between guidelines and actual care exists. Standardized performance measures represent a key strategy to improve quality of care. In Italy, a non-profit initiative of continuous monitoring and quality improvement of diabetes care is in place since 2018, promoted by the ISPEDCARD association and involving the Society for Pediatric Endocrinology and diabetology (ISPED). Aim of the present work is to report the ...

hrp0086fc12.1 | Neuroendocrinology | ESPE2016

Rabconnectin3-α is Indispensable for the Activation and Maturation of the GnRH Neuronal Network

Tata Brooke , Harbulot Carole , Csaba Zsolt , Jacquier Sandrine , de Roux Nicolas

Background: Acquisition and maintenance of fertility in mammals rely on the function of Gonadotropin Releasing Hormone (GnRH) neurons. During the juvenile period, GnRH neurons undergo morphological maturation, which involves changes in synaptic inputs and neuropeptide activation from afferent neurons. The functional importance of this maturation could be a pre-requisite for puberty onset. However, the mechanisms behind these dynamic changes have yet to be identified.<p cla...

hrp0089p3-p137 | Fat, Metabolism and Obesity P3 | ESPE2018

The Level of the Vitamin D and Metabolic Status in Children with Obesity

Mikhno Hanna , Solntsava Anzhalika , Dashkevich Helena

Objective: Determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 212 children in the University Hospital (Minsk) from 2016 to 2018 years. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, insulin, uric acid were determined. All children were divided into 2 groups: group 1 children with morbid obesity – 140 patients (90 boys(B)...

hrp0086p1-p132 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Spinal and Forearm Bone Mineralization in Adolescents with Klinefelter Syndrome

De Schepper Jean , Louis Olivia , Vanbesien Jesse , Verheyden Stefanie , De Wolf Rik , Anckaert Ellen , Gies Inge

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

hrp0082p1-d3-53 | Bone (1) | ESPE2014

Bone Mineral Density Evaluation in Children with Gaucher Disease

Larroude Maria Silvia , Drelichman Guillermo , Cassinelli Hamilton , Richard Lucia , Ruiz Alba , Reicher Paola , Cuello Fernanda , Lanza Victoria , Fernandez Ramiro , Maro Alejandra , Corrales Marcela , Arizo Adriana , Escobar Nicolas Fernandez , Rapetti Cristina , Donato Hugo , Chain Juan Jose , Zirone Sandra , Cedola Alejandra , Bietti Julieta , Sweri Maia

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...