hrp0089fc1.1 | Adrenals & HPA Axis | ESPE2018

A Novel Non-invasive Short Synacthen Test Validated in a Healthy Paediatric Population

Elder Charlotte , Vilela Ruben , Johnson Trevor , Kemp E Helen , Keevil Brian , Newell-Price John , Ross Richard , Wright Neil

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular diagnostic investigation for adrenal insufficiency (AI) amongst both paediatric and adult endocrinologists. Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. We have previously validated a reliably absorbed and well tolerated formulation of nasal synacthen (Nasacthin003) in healthy adult males, measuring the glucocorticoid response in salivary cortiso...

hrp0084p3-1133 | Puberty | ESPE2015

Clinical Characteristics of Girls with Atypical Precocious Puberty

Mawer Laura , Willemsen Ruben

Background: Precocious puberty, pubertal development in girls before 8 years, has considerable biological, psychosocial, and long-term health implications. It is classically ascribed to the premature activation of the hypothalamic-pituitary–gonadal axis, and hence an LH response >5 U/l in the LHRH test. Whilst this group of patients is well understood, there is a paucity of literature characterising patients who show pubertal development not driven by LH, atypical pre...

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0086fc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Evaluation of a Novel Method to Detect Residual ß-Cell Function by Dried Blood Spots in Children and Adolescents with a Recent Diagnosis of Type 1 Diabetes

Willemsen Ruben , Burling Keith , Ackland Fran , Edge Julie , Diaz Renuka , Barker Peter , Guy Catherine , Dunger David

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

hrp0086p2-p161 | Bone & Mineral Metabolism P2 | ESPE2016

Identification of Predictor Factors of Growth Outcome in Children with Hypophosphatemic Rickets

Marin del Barrio Silvia , Sancho Paula Casano , Naderi Ruben Diaz , Cots Jordi Vila

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

hrp0082fc11.4 | Pituitary | ESPE2014

Management of Hyperhydration in a Child with Syndrome of Inappropriate Antidiuretic Hormone Secretion (Siadh) Using a Selective Vasopresin Receptor Agonist

Delgado-Carballar Violeta , Thankamony Ajay , Willemsen Ruben , Elleri Daniela , Dunger David

Background: Management of SIADH is challenging and no optimal therapies are available in children. We present a case of an 11 years old boy with severe SIADH resistant to 30% fluid restriction in the context of an intracranial suprasellar high grade B-cell lymphoma who requires hyperhydration for chemotherapy protocol. Tolvaptan is an oral highly selective arginine vasopressin V2 receptor antagonist, which has been approved for use in SIADH in adults.Obj...

hrp0089p3-p211 | GH & 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-p444 | Fat Metabolism and Obesity P1 | ESPE2016

Neonatal Overfeeding Alters Hepatic Insulin Sensitivity During Lactation and Leads to Long-term Insulin Resistance and Fatty Liver in Mice: Key Role of Mogat1

Ramon-Krauel Marta , Pentinat Thais , Cebria Judith , Vila Maria , Perez-Wienese Ricky , Kalko Susana , Tietge Uwe , Plosch Torsten , Diaz Ruben , Jimenez-Chillaron Josep

Background: Excessive energy intake and rapid weight gain early in life are associated with obesity, type 2 diabetes, hepatic steatosis and other features of the metabolic syndrome. The monoacylglycerol acyltransferase (MGAT) is an enzyme involved in an alternative pathway for triglyceride (TAG) synthesis and storage. It has been recently proposed to have potential implications in the pathogenesis of hepatic insulin resistance (IR).Objective: To understa...

hrp0082p2-d2-378 | Fat Metabolism & 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...

hrp0094p1-149 | Sex Endocrinology and Gonads B | ESPE2021

Query By Telarquia: Has there been an increase due to the SARS-COV19 pandemic?

Vilella Leyre Aurora , Martin Amaia San , Maeso Sandra , Sarasua-Miranda Ainhoa , Diez-Lopez Ignacio ,

Have a real increase in precocious and advanced puberty with COVID19? Retrospective observational analytical study in which we compared the incidence of first consultations made by early thelarchies between the months of March to December 2019 and between March and December 2020 at the Pediatric Endocrinology(PE)consultation in our hospital, and the increase in diagnosis of precocious puberty (PP)and advanced puberty (PA) in the cases evaluated for this reason, with the aim of...