hrp0086p1-p815 | Syndromes: Mechanisms and Management P1 | ESPE2016

6-Year-Old Girl with Mutation in DNMT3A – A New Overgrowth Syndrome

Ronholt Ann-Margrethe , Boxil Martin , Jensen Uffe , Hertz Birgitte

Background: Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth and other clinical features. Overgrowth may be apparent at birth and can be static or progressive. Some syndromes are associated with increased tumor risk.Objective and hypotheses: A 6-year-old girl with accelerated growth rate was referred. She was born at term and was 55 cm long at birth (+2.4 SD). At 6 years, she was 134.4 cm tall (+3.7 SD) with ...

hrp0082p2-d2-599 | Thyroid (1) | ESPE2014

Severe Urticaria in Graves’ Disease: is Carbimazole to Blame?

Ponmani Caroline , Mcclatchey Martin , Kanzaria Shilpa , Keane Morgan , Banerjee Kausik

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

hrp0082p3-d3-802 | Gonads and Gynaecology | ESPE2014

The Effects of Rhythmical Massage Therapy and Heart Rate Variability-Biofeedback on Primary Dysmenorrhea a Qualitative Study

Boning Anna , Karutz Aurelia , Vagedes Jan , Berger Bettina , Martin David

Aim: This study investigated rhythmical massage therapy (RMT) and heart rate variability-biofeedback (HRV) to treat dysmenorrhea.Methods: As a part of a randomized controlled trial, 60 patients were allocated to one of the two intervention groups or the crossover control group. For the qualitative study, before and after the 3-month intervention, the women drew their pain into a body silhouette. With the aid of these drawings, half-structured interviews ...

hrp0084p1-115 | Puberty | ESPE2015

Clinical Guidance on 17β-Oestradiol and LH Serum Levels in Girls with Premature Thelarche Based on Clinical Outcome of 129 Girls Aged up to 4 Year with Premature Thelarche in West Sweden

Osterbrand Martin , Alvin Kerstin , Fors Hans , Norjavaara Ensio

Background: Simple clinical investigations to differ harmless premature thelarche (PT) from pubertal precocity and other pathological conditions are needed as PT is a common condition in girls under the age of 3–4 year.Objective and hypotheses: Since 17β-oestradiol (17β-E2) is the major driver of breast development, the hypothesis is, that it is possible to define an upper serum 17β-oestradiol (17β-E2) level for harmless PT in gi...

hrp0084p3-918 | GH & IGF | ESPE2015

Are Short Children with Low GH Secretion Metabolically Different from Children of Normal Height?

Tidblad Anders , Ekstrom Klas , Ritzen Martin , Marcus Claude

Background: Severe GH deficiency (GHD) leads to several metabolic effects in the body ranging from abnormal body composition to biochemical disturbances such as high insulin sensitivity. However, less is known regarding these parameters in children with a milder deficiency in GH secretion.Objective and hypotheses: To analyse if short children with a relatively low GH secretion differ metabolically from healthy children of normal height.<p class="abst...

hrp0084p3-930 | GH &amp; IGF | ESPE2015

IGF1 Deficiency: An Important Differential Diagnosis in Severe Growth Failure and Its Excellent Response to rhIGF1 Replacement Therapy

Giri Dinesh , Storr Helen , Savage Martin O , Ramakrishnan Renuka

Background: IGF1 is the key effector peptide in the control of normal growth. IGF1 deficiency in the presence of normal GH is associated with growth failure. This may be caused by primary defects in the GH-IGF1 axis or by conditions such as malnutrition or chronic inflammation. Severe primary IGF1 deficiency (height <−3 S.D., serum IGF1 <2.5th centile, GH normal) is an European Medicines Agency (EMA) licensed indication for rhIGF1 therapy. We repor...

hrp0094p2-464 | Thyroid | ESPE2021

Atypical presentation of acute suppurative thyroiditis in a 6 year old child.

Liapi Maria , Möllers Martin , Feldkamp Joachim , Jorch Norbert

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0092p1-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Nationwide Study of the Prevalence & Initial Management of Atypical Genitalia & Delayed Sex Assignment in the Newborn

Rodie Martina , Ali Salma , Jayasena Arundathi , Al-Enazi Naser , McMillan Martin , Cox Kathyrn , Cassim Sumaiya M. , Henderson Stuart , Ahmed S.Faisal

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

hrp0084p2-392 | GH &amp; IGF | ESPE2015

Unaltered Ratio of Circulating Levels of GH Isoforms after Administration of Different GH Provocative Tests in a Population of Short Stature Children

Rigamonti Antonello , Meazza Cristina , Bidlingmaier Martin , Muratore Valentina , Martina Luparia , Bini Silvia , Pagani Sara , Cella Silvano , Bozzola Mauro

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...