hrp0086wg2.3 | ESPE Obesity Working Group (OWG) | ESPE2016

Clinical Approach To Severe Early Onset Childhood Obesity

Martos-Moreno Gabriel A.

The increase in childhood obesity prevalence led to the establishment of a monographic obesity clinic since 2009 in our Department. To date, over 1600 patients have been visited, focusing on early onset severity and generating a valuable dataset on the characteristics of these patients (“The Madrid cohort”). This has allowed the performance of genomic and genetic studies, which have led to the demonstration of a genetic background, underlying the development of the d...

hrp0082p2-d2-524 | Pituitary (1) | ESPE2014

Pituitary Stalk Interruption Syndrome: a Sequential Manner to Gain Pituitary Hormone Deficiencies with Still Unknown Molecular Basis

Jerez Elena , Echeverria Gabriela , Munoz-Calvo Teresa , Pozo-Roman Jesus , Martos-Moreno Gabriel , Argente Jesus

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...

hrp0089fc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Successful Immune Tolerance Induction in the First Case of Neutralizing Antibody Mediated Loss of Efficacy of Asfotase Alfa Treatment in Hypophosphatasia

Martos-Moreno Gabriel A , Gonzalez-Vicent Marta , Sebastian Elena , Argente Jesus

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

hrp0086p1-p449 | Fat Metabolism and Obesity P1 | ESPE2016

Efficacy, Safety and Metabolic Effects of Carbohydrate Restriction in the Treatment of Obese Adolescents

Martos-Moreno Gabriel A , Gonzalez-Leal Rocio , Argente Jesus

Background: Dietary carbohydrate restriction in the treatment of obese adolescents could cause a substantial shift in the substrates used as an energy source, inducing changes on body composition and metabolism, but experience in this age range is limited.Objective: We assessed the influence of 6 months of dietary carbohydrate restriction on body composition and lipid and carbohydrate metabolism in obese adolescents.Method: Thirty-...

hrp0082p2-d3-388 | Fat Metabolism & Obesity (2) | ESPE2014

Metformin Treatment in Obese Children Enhances Weight Loss Related Improvement in Impaired Glucose Tolerance

Bartucci Andrea , Martos-Moreno Gabriel A. , Barrios Vicente , Argente Jesus

Background: Impaired glucose tolerance ((IGT), glucose ≥140mg/dl at 120’ in the oral-glucose-tolerance-test (OGTT)) is prevalent in childhood obesity. It is frequently reversed after weight loss, although an eventual role for metformin treatment has been postulated.Objective: To evaluate the benefits of metformin addition to conservative treatment on weight loss and IGT in obese children.Patients and methods: We studied ...

hrp0082p3-d2-681 | Bone (1) | ESPE2014

Variability in Clinical and Genetic Spectrum in Hypophosphatasia: Natural History in Two Patients

Martos-Moreno Gabriel A , Lerma Sergio , Garcia-Esparza Elena , Argente Jesus

Background: Hypophosphatasia (HPP) is inherited in an autosomal recessive fashion, although symptoms in heterozygous carriers are described. Age at symptom onset determines six clinical forms with different severity and prognosis, but showing phenotypic overlapping.Objective: We aimed to show this genetic and clinical variability by analyzing two cases.Case 1: Male, born at 38+5 weeks with 2250 g (−2.22 SDS) and 45 cm (&#8722...

hrp0084p3-664 | Bone | ESPE2015

Short Stature in Osteogenesis Imperfecta is not Caused by Deficiencies in IGF1 or IGF-BP3

Semler Oliver , Hoyer-Kuhn Heike , Allo Gabriel , Schoenau Eckhard

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

hrp0092p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Dual X-ray Absorptiometry in Children With Hypophosphatasia Treated with Asfotase Alfa: A Pooled Post Hoc Analysis

Simmons Jill H. , Rush Eric T. , Petryk Anna , Zhou Shanggen , Martos-Moreno Gabriel Á.

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

hrp0089p2-p104 | Diabetes & Insulin P2 | ESPE2018

Age and Exocrine Pancreatic Enzyme Requirements are Major Determinants for Carbohydrate Metabolism Impairment in Children Affected with Cystic Fibrosis

Escudero Janire , Uribe Amalia , Ramon Villa Jose , Argente Jesus , Martos-Moreno Gabriel A.

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...

hrp0089p1-p117 | Fat, Metabolism and Obesity P1 | ESPE2018

The More Obese – The Less Pubertal Height Gain

Holmgren Anton , Niklasson Aimon , Martinez-Villanueva Julian , Martos-Moreno Gabriel A , Argente Jesus , Albertsson-Wikland Kerstin

Background: In a population of a community-based setting (BMISDS range −3.5 to +4.1), there is a negative linear correlation between childhood BMISDS and pubertal height gain, together with earlier onset of pubertal growth with higher BMISDS for both sexes (1).Objective: To investigate the impact of BMI in childhood on the pubertal pattern of growth for obese children in a clinical setting.Met...