hrp0092p1-374 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Growth in the First Ten Years after Antiretroviral Therapy Initiation Among HIV-Infected Children in the CoRISpe Spanish Pediatric Cohort.

Riscart Jesus Dominguez , Montojo Fatima Ara , Garcia Luis Escosa , Costa Talia Sainz , Casado Isabel Gonzalez

Objectives: Previous studies have described impaired growth in HIV-infected children. Many of them showed weight and height improve after ART initiation Most series include children from resource limited settings in which malnutrition is frequent and treatment is not fully available. We aim to characterize long-term growth in a cohort of HIV-infected children after ART initiation and to identify determinant factors.Methods</stron...

hrp0089p3-p196 | GH &amp; IGFs P3 | ESPE2018

Main Discrepancies between Predicted and Observed Growth Responses with iGRO in Children Treated with GHr in Spain

Palma Cristina Mora , Martin Nerea Itza , Fernandez Julio Guerrero , Fresno Luis Salamanca , Bonis Ana Coral Barreda , Casado Isabel Gonzalez

Introduction: Growth prediction algorithms (i.e. iGRO), provide an estimate of a patients’ likely growth in the first year, and subsequent years, of GH treatment at a given dose, taking into account the patient’s combination of physical characteristics. Comparing a patient’s actual growth with their predicted growth after the first year of GH treatment, it is possible to determine whether the patient is responding to GH as expected (Index of responsiveness; IoR)...

hrp0089p3-p331 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

GnRH Analogues and Cross-Sex Hormonal therapy: Side Effects in Transgender Youth

Palma Cristina Mora , Fernandez Julio Guerrero , Martin Nerea Itza , Villalobos Arancha Ortiz , Bonis Ana Coral Barreda , Fresno Luis Salamanca , Casado Isabel Gonzalez

Background: Transsexuality during childhood/adolescence is a complex condition usually ending in dysphoria (GD). The prevalence of transgenderism is increasing in Pediatrics. In the process of sexual reassignment, a correct pharmacological treatment and the knowledge of possible consequences are necessary.Objetive: The objective of this study is to present the evolution of the physical and analytical characteristics and side effects in Transgender childr...

hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...