hrp0082p1-d2-249 | Thyroid (1) | ESPE2014

Capillary TSH Cut-off Levels for Congenital Hypothyroidism Screening: Evidence Against Adopting the UK Threshold of 10 mIU/l

Jones Jeremy , Shaikh Guftar , Mason Avril

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

hrp0098rfc4.4 | Adrenals and HPA Axis 1 | ESPE2024

Serum cortisol correlates strongly with salivary cortisol and cortisone in girls and boys, and across all ages

Buckingham-Woodhouse Olivia , Park Julie , Keevil Brian , Adaway Jo , Hawcutt Daniel , Elder** Charlotte , Blair** Joanne

Background: Cortisol (SerC) is generally measured in serum. However, blood tests require attendance at a healthcare provision and can be distressing and inconvenient. Cortisol (SC) and cortisone (SCn) can be measured in saliva. Saliva sampling is patient-friendly, minimally invasive and can be performed at home. We present correlations between paired SC and SCn and SerC measurements in a large paediatric cohort.Methods: ...

hrp0084fc4.2 | Growth | ESPE2015

A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Murray Philip G , Alston Charlottle L , He Langping , McFarland Robert , Shield Julian PH , Morris Andrew A M , Crushell Ellen , Hughes Joanne , Taylor Robert W , Clayton Peter E

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

hrp0086p1-p925 | Thyroid P1 | ESPE2016

L-selenomethionine Supplementation in Children and Adolescents with Autoimmune Thyroiditis: Preliminary Results of a Randomized Double-blinded Placebo-controlled Clinical Trial

Kyrgios Ioannis , Dimopoulou Aikaterini , Kotanidou Eleni , Kleisarchaki Angeliki , Mouzaki Konstantina , Galli-Tsinopoulou Assimina

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...

hrp0097p1-373 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Methodological considerations on determining sex steroids in children: Comparison of conventional immunoassays with LC-MS/MS

Ankarberg Lindgren Carina , Becker Charlotte , Svala Emilia , Ryberg Henrik

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

hrp0086p1-p927 | Thyroid P1 | ESPE2016

Prevalence of Congenital Hypothyroidism and Thyroid Function Follow-Up of Children with Tsh Cutoff between 5 and 10 mIU/l in Neonatal Screening

Christensen-Adad Flavia Correa , Mendes-dos-Santos Carolina Taddeo , Goto Maura Mikie Fukujima , Sewaybricker Leticia Esposito , Guerra-Junior Gil , D'Souza-Li Lilia Freire Rodrigues , Morcillo Andre Moreno , Lemos-Marini Sofia Helena Valente

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

hrp0094p1-100 | Thyroid A | ESPE2021

Serum fibroblast growth factor 21 (FGF-21) levels of children and adolescents with Hashimoto’s thyroiditis, before and after L-thyroxin medication

Drongitis Pavlos , Kotanidou Eleni P , Serbis Anastasios , Tsinopoulou Vasiliki Rengina , Gerou Spyridon , Galli-Tsinopoulou Assimina ,

Background: Fibroblast growth factor 21 (FGF-21) is a complex molecule involved in lipid and glucose metabolism. FGF-21 shares biochemical pathways and sites of action with thyroid hormones. Current data correlate FGF-21 levels to thyroid function. The aim of the present study was to investigate possible associations among FGF-21 levels, resting metabolic rate (RMR), lipidemic profile and L-thyroxin replacement therapy treatment in children and adolescents wit...

hrp0089p1-p009 | Adrenals and HPA Axis P1 | ESPE2018

The Relationship of Baseline, Incremental and Peak Cortisol Following a Short Synacthen Test – Single-centre Analysis of Three Years’ Data

Aji Apoorva , Colyer Sharon , Burn Sarah , Dimitri Paul , Wright Neil , Krone Nils , Elder Charlotte

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) amongst adult and paediatric endocrinologists. AI can present insidiously and symptoms may be non-specific. The number of medical indications for glucocorticoids is growing and SST usage is correspondingly increasing. There is evidence that an early morning plasma cortisol (EMC) of below ~100–150 nmol/l is highly predictive of failing the SST and the cor...

hrp0086p1-p755 | Pituitary and Neuroendocrinology P1 | ESPE2016

Gonadotropin-Releasing Hormone Stimulation Test in Girls Younger than 3 Years Old: Does the Stimulated LH Greater Than 5 IU/l Always Mark Central Puberty Precoccious?

Karabulut Gulcan Seymen , Atar Muge , Cizmecioğlu Filiz , Hatun Şukru

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

hrp0098p1-291 | Thyroid 3 | ESPE2024

Response to TRIAC therapy in a child with Resistance to Thyroid Hormone beta and behavioural abnormalities

Ramakrishnan Anand , Jarvis Charlotte , Thomas Jay , Armitage Suzanne , Lyons Greta , Halsall David , Chatterjee Krishna , Ramakrishnan Renuka

Introduction: Resistance to thyroid hormone beta, a rare disorder due to mutation in thyroid hormone receptor β, results in raised thyroid hormones with non-suppressed TSH and variable symptoms. Manifestations of RTHb in childhood include failure to thrive, propensity to ENT infections and behavioural abnormalities including ADHD. We report biochemical and behavioural responses to therapy with triiodothyroacetic acid (TRIAC), a centrally-acting thyroid ho...