hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

hrp0086p2-p536 | Fat Metabolism and Obesity P2 | ESPE2016

How Early is Insulin Resistance in Our Pediatric Population with Metabolic Syndrome

Yadav Sangita , Kaviya L , Mantan Mukta , Kaushik Smita

Background: Childhood critical period for onset/continuity of obesity with development of significant clinical and metabolic changes, impairing health in adulthood. Metabolic syndrome on rise both in adult and pediatric obese Indian population. Development of impaired glucose tolerance and progress to insulin resistance and other metabolic alterations like hypertension, dyslipidemia, Non alcoholic fatty liver disease are important.Aim: Evaluate insulin r...

hrp0082p2-d1-457 | Growth | ESPE2014

Relation Between CNP and the Effect of Combined Treatment With GnRHa and GH on the Linear Growth in Mid/Late Pubertal Girls with Central Precocious Puberty or Early and Fast Puberty at Great Bone Ages

Hua-mei M A , Zhe S U , Yin-ya L I

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

hrp0084p2-477 | Growth | ESPE2015

BASIC: Bone Age Study in Children

Cockill Toby , Hewitt Amanda , Wright Neil , Elder Charlotte

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...

hrp0084p2-500 | Perinatal | ESPE2015

Birth Incidence of Prader-Willi Syndrome in France

Bar Celine , Diene Gwenaelle , Molinas Catherine , Casper Charlotte , Tauber Maithe

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder characterised in neonates by hypotonia and feeding problems. French birth incidence has never been reported.Objective and hypotheses: To evaluate incidence of PWS at birth in France.Method: Identification of patients with a molecular diagnosis of PWS born between January 1st, 2013 and December 31st, 2013 was obtained by combining va...

hrp0086p2-p82 | Adrenal P2 | ESPE2016

A Novel Mutation of HSD3beta2 Presenting as Hypospadias with Salt-wasting in a Male Infant

Buchanan C.R. , Kalitsi J. , Ghataore L. , Taylor N.F. , Clifford-Mobley O. , Rumsby G. , Kapoor R.R.

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

hrp0094p1-24 | Diabetes A | ESPE2021

Resolution of feeding problems in patients with congenital hyperinsulinism

Worth Chris , Hall Caroline , Wilson Sarah , Gilligan Niamh , O’Shea Elaine , Salomon-Estebanez Maria , Dunne Mark , Banerjee Indraneel ,

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...

hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

hrp0095lb16 | Late Breaking | ESPE2022

Glucose variability in 6–12-month-old healthy infants

Hauschild Michael , Monnard Cathriona , L. Eldridge Alison , Hansen Erik , A. Dwyer Andrew , Rytz Andreas , Darimont Christian

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...

hrp0082p2-d1-589 | Thyroid | ESPE2014

No Difference in Cognitive Development of Young Adults and Adolescents Affected by Congenital Hypothyroidism Compared to Their Sibling Controls Despite High Dose L-Thyroxin Treatment

Aleksander Paulina , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...