hrp0086p1-p38 | Adrenal P1 | ESPE2016

Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort

Miranda Mirela , Carvalho Daniel , Gomes Larissa , Madureira Guiomar , Marcondes Jose , Billerbeck Ana Elisa , Rodrigues Andressa , Presti Paula , Kuperman Hilton , Damiani Durval , Medonca Berenice , Bachega Tania

Background: Most congenital adrenal hyperplasia (CAH) patients carry mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations varying according to ethnicity. A good genotype-phenotype correlation is observed, allowing the use of molecular analysis in clinical practice.Objective and hypotheses: To review the molecular diagnosis in a large cohort of CAH patients in order to create a diagnostic panel in our po...

hrp0086p1-p257 | Diabetes P1 | ESPE2016

Health-Related Quality of Life and its Associated Factors in Children With Type 1 Diabetes Mellitus

Murillo-Valles Marta , Rajmil Luis , Bel-Comos Joan , Perez Jacobo , Corripio Raquel , Carreras Gemma , Herrero Xavier , Mengibar Jose-Maria , Rodriguez-Arjona Dolors , Ravens-Sieberer Ulrike , Raat Hein

Objective: To assess health-related quality of life (HRQOL) in a cohort of children and adolescents with type 1 Diabetes (T1DM) and its associated factors.Methods: This was a descriptive study of 136 patients with T1DM from five hospitals in Catalonia, Spain (72 girls, mean age 13.4 years (range 8–19). Inclusion criteria were more than 6 months from diagnosis, more than 8 years old and without cognitive problems. Sociodemographic (age, sex, family l...

hrp0086p1-p368 | Gonads & DSD P1 | ESPE2016

Precocious/Early and Accelerated Puberty in a Boy with a Homozygous R192C Mutation in CYP19 (Aromatase) Gene

Costanzo Mariana , Guercio Gabriela , Garcia-Feyling Jose , Saraco Nora , Marino Roxana , Perez Garrido Natalia , Manuel Lazzati Juan , Maceiras Mercedes , Aurelio Rivarola Marco , Belgorosky Alicia

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...

hrp0086p1-p639 | Growth P1 | ESPE2016

Spanish ECOS Study Analysis: Socioeconomic Data, Adherence and Growth Outcomes with Case Studies

Rodriguez-Arnao Maria , Sanchez Amparo Rodriguez , Lopez Ignacio Diez , Fernandez Joaquin Ramirez , de la Vega Jose Bermudez , Ballano Virginia , Nieto Jenny Alvarez , Koledova Ekaterina

Background: The ECOS observational study in Spain (NCT01376921) aims to evaluate adherence to r-hGH therapy prescribed via the easypod™ electromechanical auto-injector device and to analyse factors that may influence adherence in paediatric patients. Easypod™ administers pre-set doses of Saizen® r-hGH and stores accurate records of each dose and injection taken, which can then be shared with the HCP for evaluation of the patient’s adherence.<...

hrp0086p2-p681 | Growth P2 | ESPE2016

Evaluation of GH Deficient Pre Pubertal Children Treated with Omnitrope® Using the AuxoLog Computer Program

del Campo Maria Ruiz , Gonzalez Jose Revorio , Lechuga Alfonso , Gila Ana Lucia Gomez , Cancio Monica Fernandez , Carrascosa Antonio , Garcia Margarida Palla

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

hrp0082p2-d1-366 | Fat Metabolism &amp; Obesity | ESPE2014

Uric Acid and Risk for Atherosclerotic Disease Early in Life

Bassols Judit , Martinez-Calcerrada Jose-Maria , Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Osiniri Ines , Riera-Perez Elena , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Increased uric acid is an independent risk factor for cardiovascular disease in obese adults and adolescents. The relationship between uric acid and atherosclerotic risk early in life is unknown.Objective and hypotheses: We investigated whether uric acid relates to carotid intima–media thickness (cIMT), a marker of preclinical atherosclerosis, in a rather large sample of school-age children and investigated the interaction of obesity sta...

hrp0082p2-d2-378 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Circulating Concentrations of Fibroblast Growth Factor 21 are Undetectable in Human Infants at Term Birth and Surge within Hours After Birth

Sanchez-Infantes David , Gallego-Escudero Jose Miguel , Cereijo Ruben , Diaz Marta , Aragones Gemma , Lopez-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibanez Lourdes

Background: In rodents, fibroblast growth factor 21 (FGF21), an endocrine member of the FGF family, is mainly produced in the liver and promotes glucose oxidation in several tissues; the circulating concentrations of FGF21 rise shortly after birth. In the human, the ontogeny of circulating FGF21 is essentially unknown.Objective and hypotheses: To assess whether there is also a neonatal surge of circulating FGF21 concen...

hrp0082p2-d2-549 | Puberty and Neuroendocrinology (1) | ESPE2014

Evaluation of Age at GnRH Analogue Treatment Discontinuation, Age at Menarche and Adult Height in Girls with Central Precocious Puberty from the Spanish Registry

Corripio Raquel , Soriano-Guillen Leandro , Canete Ramon , Castro-Feijoo Lidia , Escribano Arancha , Espino Rafael , Herrero-Espinet Javier , Labarta Jose-Ignacio , Argente Jesus

Background: The Spanish Registry PUBERE was created (2007) with 53 hospitals.Objective and hypotheses: i) To determine the chronological age (CA) and bone (BA) at GnRH analogue withdrawal; ii) to analyze the age at menarche and time elapsed after stopping treatment; and iii) to know adult height data.Method: Patients with central precocious puberty (CPP) born after 1992, diagnosed before 8 years in girls, with BA/CA >1 year and...

hrp0082p2-d1-586 | Thyroid | ESPE2014

Thyroid Function and Autoimmunity and Their Relation to Weight Status in Healthy Children and Adolescents

Garcia-Garcia Emilio , Galera-Martinez Rafael , Garcia-Escobar Iciar , Oliva-Perez Patricia , Gomez-Llorente Jose L. , Momblan Jeronimo , Vazquez-Lopez Maria A. , Perales Antonio Bonillo

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...