hrp0082p3-d3-862 | Growth (4) | ESPE2014

Muccopolysacharidose and Hypopituitarism: a Case Report

Kabour Saida , Fedala Soumeya , Chentli Farida , Yaker Fetta Amel , Ali Leila Ahmed

Background: Mucopolysaccharidosis 6 (MPS6) (or Maroteaux–Lamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...

hrp0082p3-d3-943 | Puberty and Neuroendocrinology (1) | ESPE2014

Triptorelin Test in the Diagnosis of Precocious Puberty

Kabour Saida , Fedala Soumeya , Yaker Fetta Amel , Haddam Ali el Mahdi , Rabhi Lila , Chentli Farida , Meskine Djamila

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic–pituitary–ovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...

hrp0092p2-118 | Fat, Metabolism and Obesity | ESPE2019

Impact of a Comprehensive Program, on Prevalence of Childhood Obesity in Andalusia, Spain

Hernández-Soto Rocio , Saenz-Lussagnet Juan Manuel , Luque-Romero Luis Gabriel , Alcaide-Gantes Alvaro , Reina-Ceballos Inmaculada , Sicre-Alonso Silvia , Reales-Arroyo Ana Maria , Gil-Barcenilla Begoña

Introduction: Childhood obesity means a Public Health problem. It is related to chronic diseases in adults, a decrease in quality of life, and an increase in social and sanitary costs. In Spain, the National Health Service (ENSE 2017) stood the prevalence of overweight in toddler between 2 to 7 years old, in 18,26% and obesity in 10,30%, no differences between sex. In 2015 the prevalence of overweight and obesity in childhood are 21, 3 % and 6, 2 &...

hrp0086wg3.3 | ESPE Turner Syndrome Working Group (TS) | ESPE2016

The Added Value of Experience Based Coaching and the Outcomes for Women with Turner Syndrome in the Netherlands

Mijnarends Helen

To support people with chronic diseases in labour, reïntegration or participation, the Dutch Centre of Chronic Illness and Work developed a certification programme for professional experienced based coaching for patient support organisations. This 8-month during programme combines professional aid and peer-support for a diversity of chronic diseases. Experience based coaching is innovative and can assist patients emotionally by supporting them with coping and accepting th...

hrp0084p1-114 | Puberty | ESPE2015

Screening of Mutations in Idiopathic Hypogonadotropic Hypogonadism Using a Targeted Next-Generation Sequencing Approach

Kolodkina Anna , Kareva Maria , Kalinchenko Natalia , Raygorodskaya Nadezhda , Malievsky Oleg , Fidelina Olga , Vasilyev Evgeny , Petrov Vasily , Naumova Maria , Tiulpakov Anatoly

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...

hrp0084p1-120 | Puberty | ESPE2015

A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

Takagi Masaki , Daitsu Takashi , Numakura Chikahiko , Sato Takeshi , Narumi Satoshi , Hasegawa Tomonobu

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...

hrp0092p1-243 | Multisystem Endocrine Disorders | ESPE2019

A Nation-Wide Questionnaire Survey Targeting Japanese Pediatric Endocrinologists Regarding Transitional Care in Pediatric and Adolescent Cancer Patients

Miyoshi Yoko , Yorifuji Tohru , Yokoya Susumu , Nagasaki Keisuke , Kawai Masanobu , Ishiguro Hiroyuki , Okada Satoshi , Kanno Junko , Takubo Noriyuki , Muroya Koji , Ito Junko , Horikawa Reiko , Shimizu Chikako , Ozono Keiichi

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), transitional care among pediatric and adult endocrinologists has not been established in Japan.Objective and Hypotheses: To know the present situation and to cultivate a better understanding, we had conducted a nation-wide survey targeting Japanese pediatric endocrinologists.Method</stro...

hrp0089p2-p109 | Diabetes &amp; Insulin P2 | ESPE2018

A Case of Neonatal Diabetes Due to Pancreatic Hypoplasia

Karabouta Zacharoula , Katsafiloudi Maria , Bisbinas Vasiliki , Karametou Margarita , Karali Chrisa , Giannopoulos Andreas

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

hrp0086fc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Evaluation of a Novel Method to Detect Residual ß-Cell Function by Dried Blood Spots in Children and Adolescents with a Recent Diagnosis of Type 1 Diabetes

Willemsen Ruben , Burling Keith , Ackland Fran , Edge Julie , Diaz Renuka , Barker Peter , Guy Catherine , Dunger David

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...