hrp0082p1-d1-139 | Growth | ESPE2014

Functional Characterization of Three Novel Mutations in the IGF1R Gene

Juanes Matias , Guercio Gabriela , Marino Roxana , Berensztein Esperanza , Ciaccio Marta , Gil Silvia , Rivarola Marco A , Belgorosky Alicia

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

hrp0082p1-d1-203 | Reproduction | ESPE2014

Girls with Turner Syndrome have Normal Muscle Force but Decreased Muscle Power

Soucek Ondrej , Lebl Jan , Matyskova Jana , Snajderova Marta , Kolouskova Stanislava , Pruhova Stepanka , Hlavka Zdenek , Sumnik Zdenek

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...

hrp0082p2-d3-389 | Fat Metabolism & Obesity (2) | ESPE2014

Type and Time of Feeding in the First Year of Life are Not Associated to Circulating Multimeric Adiponectin Levels in Obese Children

Bellone Simonetta , Prodam Flavia , Trovato Letizia , Roccio Marta , Marolda Agostina , Fiorito Cristina , Giglione Enza , Bona Gianni

Background: Nutrition and growth in the postnatal phase seems to have an important role for the future risk of obesity, type 2 diabetes, and cardiovascular diseases. It has been suggested that circulating levels of adiponectin in the first 2 years of life are influenced by type of feeding in small for gestational age.Objective and hypotheses: Aim of our study was to evaluate if total and multimeric adiponectin levels in obese adequate for gestational age...

hrp0082p2-d3-507 | Perinatal and Neonatal Endocrinology | ESPE2014

A Couple of Naturally Conceived Twins Affected by Prader–Willi Syndrome

Di Candia Stefania , Massimello Marta , Cammarata Bruna , Sgaramella Paola , Chiumello Giuseppe

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

hrp0082p3-d3-749 | Diabetes (4) | ESPE2014

Hyperglycemia: MODY: a Diagnosis to Remember

Monteiro Ricardo , Fitas Ana Laura , Amado Marta , Pina Rosa , Lopes Lurdes

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

hrp0082p3-d3-801 | Gonads and Gynaecology | ESPE2014

The Usefulness of the Leuprolide Stimulation Test as a Diagnostic Method of Idiopathic CPP in Girls

Bel Joan , Murillo Marta , Carretto Federico , Martinez Maria , Granada Marisa , Salinas Isabel

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

hrp0082p3-d1-820 | Growth | ESPE2014

Socioeconomic Factors Influence rhGH Treatment Adherence and its Response in Children

Bel Joan , Martinez Maria , Murillo Marta , de Pedro Silvina , Granada Maria Luisa

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

hrp0082p3-d1-952 | Sex Development | ESPE2014

Discordant Genotypic Sex and Concordant Phenotypes in Two Spanish Siblings with 17α-Hydroxylase/17, 20-Lyase Deficiency Carrying the Most Prevalent Mutated Alleles in Brazilian Patients

Audi Laura , Fernandez-Cancio Monica , Melon-Pardo Marta , Garcia-Garcia Emilio

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...

hrp0084p2-210 | Bone | ESPE2015

Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

Giachero Federica , Elli Francesca M , Baricco Marta , Matarazzo Patrizia , Mantovani Giovanna , de Sanctis Luisa

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

hrp0084p2-293 | Diabetes | ESPE2015

Quality of Life in Adolescent with Type 1 Diabetes and Its Relationship with Metabolic Control

Espi E Aranzazu Garza , Frances Gracia Maria Lou , Aznar Elena Corella , Lozano Marta Ferrer

Background: Type 1 diabetes (T1D) has great psychological impact on adolescents and family’s lifestyle. It influences their perception of their quality of life (QOL), their metabolic control, and it may lead to future complications.Objectives: Identify how QOL affects on T1D adolescents and its relation to metabolic control.Methods: This is a retrospective study of 55 adolescents with T1D. Diabetes impacts patients’ conce...