hrp0089p2-p343 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Biochemical, Structural and Functional Characterization of a Novel P450 Oxidoreductase Mutation Causing Virilization in a 46,XX Patient

Camats Nuria , Benito-Sanz Sara , Parween Shaheena , Lopez-Siguero Juan-Pedro , Fernandez-Cancio Monica , Fluck Christa E , Udhane Sameer S , Kagawa Norio , Audi Laura , Pandey Amit V

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

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...

hrp0082p2-d2-305 | Bone (1) | ESPE2014

Status of Vitamin D in Pregnancy to Childhood in Northern Spain: Seasonality, Sun Exposure, and Intake

Rodriguez-Dehli Ana Cristina , Riano-Galan Isolina , Velazquez Ines Olaya , Fernandez-Somoano Ana , Castilla Ane Miren , Espada Mercedes , Navarrete-Munoz Eva M , Tardon Adonina

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...

hrp0084p3-1199 | Thyroid | ESPE2015

Thyroid Nodules in Children and Adolescents

Bolado Gema Grau , de Ciriza Cordeu Maite Perez , Aguirre Andrea Cerezo , Rodriguez Javier Nunez , Sojo Amaia Vela , Estevez Amaia Rodriguez , Echevarria Itxaso Rica , Ramos Concepcion Fernandez

Background: The presence of a thyroid nodule (TN) is a rare clinical condition during childhood and adolescence. In children, classically was considered malignant and total thyroidectomy was recommended whenever a TN was detected or in the case of cold nodules. There are not long time series in children, but recent clinical guidelines recommend an initial management as in adults.Objective and hypotheses: Review TN in children in our area.<p class="ab...

hrp0094p2-261 | Growth hormone and IGFs | ESPE2021

Increased height and IGF1 serum levels in children with non-neurofibromatosis type 1 gliomas

Clement Florencia , Castro Sebastian , Dech Gaston , Martin Ayelen , Celia Fernandez Maria , Gabriela Ropelato Maria , Bergada Ignacio , Gabriela Ballerini Maria , Pennisi Patricia ,

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

hrp0098p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Description of a cohort of paediatric patients with congenital hipopytuitarism

Aguilar-Riera Cristina , Gonzalez-Llorens Núria , Mogas Eduard , Campos-Martorell Ariadna , Fernandez Paula , Vázquez Elida , Yeste Diego , Clemente Maria

Introduction: Congenital hypopituitarism is a heterogeneous disorder that involve combined pituitary hormone deficiencies.Patients and Methods: Longitudinal review of pediatric cases with congenital hypopituitarism follow up in a third level hospital.Inclusion criteria: patients under 18 years at diagnosis with combined pituitary hormone deficiencies....

hrp0084p2-459 | Growth | ESPE2015

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva Alfonso , Garre-Vazquez Ana Isabel , Santaolalla-Caballero Fabiola , Belinchon Alberta , Barreda-Bonis Ana Coral , Vasques Gabriela A , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Benito-Sanz Sara , Jorge Alexander A , Campos-Barros Angel , Heath Karen E

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

hrp0092p1-155 | Thyroid | ESPE2019

Congenital Hypothyroidism Newborn Profile After a Lower TSH Cutoff for Neonatal Screening in Southern Brazil

RIZZOTTO MARCIA INES BOFF , Kopacek Cristiane , de Castro Simone Martins , Ribeiro Sabliny Carreiro , Madi Jose Mauro , Garcia Rosa Maria Rahmi

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...