hrp0095fc6.6 | Sex Development and Gonads | ESPE2022

Breast ultrasonography: How useful in the diagnosis of precocious puberty?

Helvacıoğlu Didem , Bıyıklı Erhan , Buğdaycı Onur , Turan Serap Demircioğlu , Güran Tülay , Bereket Abdullah

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...

hrp0089p3-p083 | Diabetes &amp; Insulin P3 | ESPE2018

Real–world Clinical Evolution of Type 1 Diabetes Patients on Twenty Years

Vergaz Amparo Gonzalez , Cuartero Beatriz Garcia , Salado Laura Sanchez , Escudero Veronica Sanchez , Lacalle Concepcion Garcia , Fernandez Marta Fernandez

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic disease with important complications.Objective: Describe clinical characteristics, metabolic control and comorbidities of our pediatric diabetes population.Methods: T1DM patients diagnosed from 1996–2016 were included. Celiac and thyroid disease screening were analized.Clinical and biochemical data were compared during evolution. SPSS.21 for statistical study.<p cl...

hrp0089p2-p128 | Fat, Metabolism and Obesity P2 | ESPE2018

Leptin and Cytokines are Not the Best Markers for Metabolic S

Cuartero Beatriz Garcia , Vergaz Amparo Gonzalez , Lacalle Concepcion Garcia , Escudero Veronica Sanchez , Salado Laura Sanchez , Larramendi Carmen Hernando de

Introduction: Leptin, some cytokines and triglycéride/colesterol -HDL ratio (TG/C-HDL ratio) are markers of insulin-resistance in children and adolescents with overweight/obesity. Due to the high prevalence of this pathology it’s necessary to find and easy and better routinely marker that identify these patients in the outpatient clinic. Previous results demonstrated that TG/C-HDL ratio >2 was a better predictor of metabolic syndrome (sensitivity 100%; specificit...

hrp0094p2-115 | Diabetes and insulin | ESPE2021

HbA1c and Glucose Management Indicator relationship: can HbA1c determination be avoided?

Navarro Moreno Constanza , Sanchez Ruiz Daniel , Jose Garcia Garcia Emilio , Elizagarate Izaskun Marchueta , Gomez Gila Ana Lucia ,

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

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...

hrp0092p3-120 | Fat, Metabolism and Obesity | ESPE2019

Toward a Simple Marker of Hepato-Visceral Adiposity and Insulin Resistance:The Z-Score Change from Weight-at-Birth to BMI-in-Childhood

Malpique Rita , de Zegher Francis , Garcia-Beltran Cristina , Ibáñez Lourdes

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...

hrp0089p3-p181 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Population Screening of Hypophosphatasia. A Metabolopathy to Consider. National Multicentric Study

Aldamiz-Echevarria Koldo , Diez-Lopez Ignacio , Arranz Leonor , Garcia-Barcina MJ

Hypophosphatasia is a congenital disease, characterized by a defect in bone and dental mineralization, secondary to a deficiency in the biosynthesis of the non-specific tissue isoenzyme of bone, liver and kidney alkaline phosphatase (TNSALP). Clinical phenotype varies with age and its clinical expression is sometimes very latent. There is a small but significant number of pediatric patients NOT diagnosed with hypophosphatasia. The values of low phosphatases may go unnoticed in...

hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0086p2-p58 | Adrenal P2 | ESPE2016

Isthmic Spondylolisthesis in a Pre-pubertal Boy with Congenital Adrenal Hyperplasia During Aromatase Inhibitor Treatment

Fajardo Nadya Jaimes , Clemente Maria , Fontecha Garcia , Yeste Diego , Campos Ariadna

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...