hrp0089p2-p206 | GH & IGFs P2 | ESPE2018

Identification of Three Novel GLI2 Gene Variants Associated with Hypopituitarism

Castro-Feijoo Lidia , Cabanas Paloma , Barreiro Jesus , Silva Paula , Couce M Luz , Pombo Manuel , Loidi Lourdes

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

hrp0082p1-d3-50 | Bone (1) | ESPE2014

Genetic Study of Osteogenesis Imperfecta: Two Novel Mutations in COL1A1 and COL1A2

Castro-Feijoo Lidia , Loidi Lourdes , Quiroga Nuria , Cabanas Paloma , Heredia Claudia , Leis Rosaura , Barros Francisco , Pombo Manuel , Barreiro Jesus

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...

hrp0089p3-p211 | GH &amp; IGFs P3 | ESPE2018

Study of the Effectiveness of GH in Children Born Small for Gestational Age in an Area of Northwestern Spain and its Associated Factors

Rodriguez Paloma Cabanas , Cordo Lourdes Rey , Fernandez Antonio Bello , Martin Jose Luis Chamorro , Carro Ana Prado , Rego Ruben , Castro-Feijoo Lidia , Dans Alicia Cepedano , Conde Jesus Barreiro

Introduction: Recombinant GH is an effective treatment for short children who are born small for gestational age(SGA). Short children SGA who fail catch-up growth by 4 years of age are candidates for GH treatment, at a dose of 35–70 μg/kg per day. Factors associated with response to GH treatment during the initial 2–3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. It is important to kno...

hrp0086p1-p799 | Syndromes: Mechanisms and Management P1 | ESPE2016

NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families

Castro-Feijoo Lidia , Barreiro Jesus , Guillen-Navarro Encarna , Journel Hubert , Wakeling Emma , Jagadeesh Sujatha , LeMerrer Martine , Silva Paula , Cabanas Paloma , Pombo Manuel , Loidi Lourdes

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...