hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0084p3-1205 | Thyroid | ESPE2015

Subclinical Hypothyroidism in Children and Adolescents – A 5-year Single-center Follow-up Study

Gawlik Aneta , Such Kamila , Dejner Aleksandra , Zachurzok Agnieszka , Antosz Aleksandra , Malecka-Tendera Ewa

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...

hrp0094p1-55 | Bone B | ESPE2021

Premature epiphyseal fusion induced by a retinoic acid agonist in a young girl with fibrodysplasia ossificans progressiva

Hallgrimsdottir Sigrun , Nilsson Ola ,

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

hrp0094p2-450 | Thyroid | ESPE2021

Initial response to thionamide medication in young people with newly diagnosed thyrotoxicosis

Wood Claire , Morrison Niamh , Cole Michael , Donaldson Malcolm , Dunger David , Wood Ruth , Pearce Simon , Cheetham Tim

Methods: Patients commenced 0.75mg/kg carbimazole (CBZ) daily with randomisation to either BR or DT. We examined baseline patient characteristics, CBZ dose, time to serum TSH/FT4 normalisation and BMI Z-score. Results: There were data available from 80 patients (baseline) and 78 patients (61 female) at 6 months. Mean CBZ dose was 0.9 mg/kg/day (BR) and 0.5 mg/kg/day (DT). There was no difference in the time taken for...

hrp0094p2-475 | Thyroid | ESPE2021

Case study of 13- year-old boy suffering from papillary thyroid cancer in stage pT3aN1bMX

Bossowski Artur , Borysewicz-Sanczyk Hanna , Stożek Karolina , Dzięcioł Janusz , Czarniecka Agnieszka , Handkiewicz-Junak Daria , Jarząb Barbara

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

hrp0094p2-71 | Bone, growth plate and mineral metabolism | ESPE2021

Premature epiphyseal fusion induced by Palovarotene in a young girl with fibrodysplasia ossificans progressiva

Hallgrimsdottir Sigrun , Nilsson Ola ,

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

hrp0094p2-155 | Diabetes and insulin | ESPE2021

Dyslipidaemia in children with type 1 diabetes mellitus

Nikolaeva Nadezhda , Gumeniuk Olga , Bolotova Nina ,

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...

hrp0097rfc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Early Corneal Nerve Loss in Children with Melanocortin 4 Receptor (MC4R) Gene Mutation Related Obesity

Gad Hoda , Dauleh Hajar , Pasha Maheen , Omer Idris , Al-Barazenji Tara , Alshafai Mashael , A. Hendaus Mohamed , A. Malik Rayaz , Hussain Khalid

Background: Obesity is highly prevalent worldwide, particularly in the MENA region. Whilst simple obesity has a variable genetic and environmental basis, syndromic and non-syndromic monogenic obesity has a strong genetic component. Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury.Methods: Five children...

hrp0097p2-238 | Diabetes and Insulin | ESPE2023

CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn) in a pediatric patient with hyperglycemia, elevated HgA1c and negative anti-islet cell antibodies

Minutti Carla , Mora Guido

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...

hrp0086fc10.3 | Perinatal Endocrinology | ESPE2016

Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) Therapy in Hyperinsulinaemic Hypoglycaemia (HH) and Understanding its Molecular Action via Somatostatin Receptors by Immunohistochemistry

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Guemes Maria , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...