hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

hrp0092p1-132 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

What is the Recurrence Rate of Benign Ovarian Tumors in Childhood? Ovarian Benign Organic Tumors (OBT) are a Rare Pathology in Childhood that Require Conservative Surgery with an Unknown Risk of Recurrence

Detho Nina , Cartault Audrey , Abbo olivier , Mouttalib sofia , Pienkowski Catherine

Aim: The aim of the study was to predict the risk of tumor recurrence in OBTMaterial and Methods: We conducted a retrospective, observational study (2001-2018) on the management of OBT in girls aged 0 to 18 at Toulouse University Hospital, France.Results: 68 patients were included. 16% were prepubertal. Mean age was 11.35 ± 3.08 years. Pain was the main symptom in 49% ...

hrp0092p1-154 | Thyroid | ESPE2019

Association of Hashimoto's Thyroiditis with Antistreptolysin O titer

Voutetakis Antonis , Kanaka-Gantenbein Christina , Gryparis Alexandros , Dacou-Voutetakis Catherine

Background: Hashimoto's Thyroiditis (HT) is a relatively common autoimmune disorder that involves both cellular and humoral immunity, the latter characterized by the presence of antithyroid antibodies. Nevertheless, despite the large number of relevant studies, the underlying pathogenetic mechanisms still remain unclear; evidence and indications pointing to both genetic and environmental components. Genetic studies have uncovered molecular associations tha...

hrp0092p1-246 | Multisystem Endocrine Disorders | ESPE2019

Knowledge of the Natural History of Paediatric MEN1 is Required to Inform Decision Making for Predictive Testing in Childhood

Park Julie , Collingwood Catherine , Weber Astrid , Blair Joanne

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a dominantly inherited syndrome characterised by parathyroid hyperplasia, pancreatic neuroendocrine tumours (PNET) and pituitary adenomas, although >20 tumours are described. Clinical guidelines1 recommend annual biochemical surveillance and abdominal imaging from <10yrs and pituitary imaging every 3yrs. Age at start of surveillance is derived from the youngest reported patient with a...

hrp0089p2-p097 | Diabetes &amp; Insulin P2 | ESPE2018

Higher Percentage of Insulin Pump Users at Isle of Man (IOM) – Two Years Observational Data

Varshney Vineet , Kurien Anna , Unsworth Pam , Wallinger Catherine , Gangadharan Arundoss

Introduction: Insulin pump service has changed the outlook of diabetes management in children with diabetes. Studies have shown that better metabolic control is achievable even in patients with poor adherence to medical management. NICE in UK recommends the use of insulin pump for children with poor metabolic control, disabling hypoglycaemia and also when facing challenges with MDI insulin use. National Paediatric Diabetes Audit (NPDA) reports helps to measure our clinical per...

hrp0089p2-p337 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Case of Testotoxicosis Due to a Constitutive Mutation of the LH Receptor Initially Presented as a Central Precocious Puberty at 3 Years Old

Porquet-Bordes Valerie , Pienkowski Catherine , Roux Nicolas de

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

hrp0089p3-p327 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Evolutive Profile of Pauci-symptomatic Forms of Mc Cune Albright Syndrome

Cartault Audrey , Tryoen Emilie , Paris Francoise , Bar Celine , Pienkowski Catherine

In young girls, the occurrence of secretory ovarian cysts may be the first manifestation of Mc Cune Albright Syndrome. We reported the evolutive profile of 8 patients with peripheral precocious puberty (PP) with (n=5 cases) or without metrorrhagia (n=3). On the first episode, they were 3.8 years old (range 2.5 to 7.25 years), the average diameter of the ovarian cyst was 38.5 mm (range 25 to 88 mm), the mean estradiol level was 32.5 pg/ml (range 3 to 160), mea...

hrp0086fc2.1 | Bone &amp; Mineral Metabolism | ESPE2016

Characterization of GNAS miRNAs Targets: Trying to Better Understand the Pathophysiology of Pseudohypoparathyroidism 1B (PHP1B)

Hanna Patrick , Netchine Irene , Le Stunff Catherine , Linglart Agnes

Background: Patients affected with PHP1B are characterized by resistance to PTH which binds to the PTH receptor and activate the cAMP/Gsa signaling pathway. Gsa is encoded by GNAS, a locus subjected to genomic imprinting. PHP1B patients present with abnormal methylation at the maternal A/B promoter and, in some cases, at the other promoters (XLas, GNAS-AS1 and NESP55) of the GNAS locus, likely leading to a decreased express...

hrp0086fc14.2 | Growth : Mechanisms | ESPE2016

CG Methylation at the IGF1 P2 Promoter is a Major Epigenetic Determinant of Postnatal, Not Foetal Growth

Ouni Myriam , Le Stunff Catherine , Castell Anne Laure , Bougneres Pierre

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...

hrp0084p2-485 | Hypo | ESPE2015

Is Bedside Monitoring of Blood Beta-Hydroxybutyrate Levels Reliable in the Management of Hypoglycaemia in Children?

Phanse Supriya , Collingwood Catherine , Alsaffar Hussain , Didi Mohammed , Senniappan Senthil

Background: Bedside blood ketone measurement has often been used in the management of diabetic ketoacidosis. However there is no available data on its reliability in the evaluation of hypoglycaemia in children. We aimed to assess the reliability of bedside ketones (β-hydroxybutyrate, BHB) in the evaluation of hypoglycaemia in children.Objective and hypotheses: To assess reliability of bedside ketone measurement in a clinical setting of hypoglycaemia...