hrp0098p2-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Bisphosphonates: A promising treatment for osteolytic lesion in Langerhans cell histiocytosis

Ho Cindy , Pian Tee Pian , Edward Puhaindran Mark , Chong Quah Thuan

Langerhans cell histiocytosis (LCH) represents a spectrum of rare disorders characterised by idiopathic infiltration and accumulation of abnormal histiocytes (i.e. the Langerhans cells) within various tissues. Bone is the most frequently affected tissue in children with LCH, with unifocal involvement being more common than multifocal involvement. Some of these lesions can cause severe pain and lead to pathological fractures. We describe a case series of 2 patients who had rece...

hrp0082p2-d3-619 | Turner Syndrome | ESPE2014

A Child with Clinical and Cytogenetic Features of Male Edward Syndrome and Turner Syndrome with Bilateral Gonadoblastoma in Infancy

MacMahon J , Morrissey R , McDermott M , Quinn F , Green A , Lynch SM

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

hrp0089s8.1 | Thyroid disorders | ESPE2018

Thyroid Hormone Transporter Defects

Visser W Edward

Thyroid hormone is crucial for metabolism and development. Cellular thyroid hormone homeostasis requires adequate function of (i) thyroid hormone transporter proteins, (ii) deiodinating enzymes and (iii) nuclear receptors. Thyroid hormone transporters are crucial for cellular uptake of T3 and T4. Over the last years, a number of thyroid hormone transporters have been identified and their physiological relevance has been established. The most well-studied example is MCT8 defici...

hrp0086s5.3 | Mitochondrial dysfunction and endoplasmic reticulum stress in endocrine diseases | ESPE2016

Activation of HSP 72: A Therapeutic Target for Diseases Related to both ER Stress and Mitochondrial Dysfunction

Febbraio Mark

Over the past decade, work from our research group has demonstrated that over-expression or activation of the chaperone protein heat shock protein 72 (HSP72; the inducible form of the 70kDa family of heat shock proteins) in skeletal muscle reduces obesity-induced insulin resistance (for review see). These findings led to the development of the small molecule activator of HSP72, namely BGP-15 which, in pre-clinical studies, has proven to be effective in the treatment of several...

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...

hrp0092p3-311 | Late Breaking Abstracts | ESPE2019

Serum Calcium, 25(OH) Vitamin D and Bone Alkaline Phosphatase in Children with Epilepsy Receiving Antiepileptic Drugs in University of Port Harcourt Teaching Hospital

Chukwumerije Chidinma , Yarhere Iroro , Alikor Edward

Objective: The aim of this study was to analyse bone mineral status in children with epilepsy, on antiepileptic drugs (AEDs) regimen, using serum calcium, 25 (OH) vitamin D and Bone alkaline phosphatase (BALP) and compare these with age and sex matched controls.Patients and Methods: This was a case - control study, conducted at University of Port Harcourt Teaching Hospital, from September 1 2018 to May 31 2019, with 200 ...

hrp0086p2-p155 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bisphosphonate Treatment of Hypercalcemia in a Child with Jansen’S Metaphyseal Chondrodysplasia

Sharwood Erin , Harris Mark

Background: Jansen’s Metaphyseal Chondrodysplasia is a rare autosomal dominant condition caused by activating mutations in the parathyroid hormone/parathyroid hormone related peptide receptor (PTH1R). It is associated with persistent PTH-independent hypercalcemia and hypercalciuria from an early age. Our patient, a 2 year old boy with genetically proven Jansen’s Metaphyseal Chondrodysplasia, developed bilateral medullary nephrocalcinosis secondary to persistent hyper...

hrp0086p2-p294 | Diabetes P2 | ESPE2016

Differences in Hba1c among Different Ethnicities; Is it just a Matter of Mean Glycaemia?

Cocca Alessandra , Holloway Edward , Chapman Simon , Iafusco Dario , Hulse Tony

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

hrp0094p2-112 | Diabetes and insulin | ESPE2021

A single-centre evaluation of remote video consultation for children and young people with diabetes

Andrews Edward , Odeleye Esther , Kumaran Anitha , Trevelyan Nicola ,

Background: Throughout 2020 telemedicine was rapidly deployed across health services and, during the COVID-19 pandemic, replaced many face-to-face (FTF) medical consultations. Children and young people (CYP) with diabetes present a unique opportunity for this type of consultation, due to the ability to interpret and share glucose data via other platforms. This study describes both CYP and parent experience of a new telemedicine service for CYP with diabetes.</...

hrp0098p1-204 | Thyroid 2 | ESPE2024

Impact of the Presence of a Feeding Tube on Tiratricol Maintenance Dosing and Efficacy Outcomes in Patients with MCT8 Deficiency

Groeneweg Stefan , Edward Visser W.(on behalf of the Triac Trial I investigators)

Objective: The Triac Trial I was a multicentre, open-label, single-arm, Phase II study of tiratricol (triac) in the treatment of monocarboxylate transporter 8 (MCT8) deficiency. The study demonstrated the beneficial effect of tiratricol in alleviating peripheral thyrotoxicosis. A subset of patients entered the study whilst having a feeding tube. Here, we investigate the impact of the presence of a feeding tube on tiratricol dosing and reaching the serum total ...