hrp0086rfc3.4 | Pituitary | ESPE2016

Children and Adolescents with Severe TBI can Develop Late Pituitary Dysfunction Independently of the Results of the First Pituitary Evaluation

Dassa Yamina , Claire Personnier , Helene Crosnier , Mathilde Chevignard , Marie Bourgeois , Magali Viaud , Michel Polak

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

hrp0086rfc10.1 | Perinatal Endocrinology | ESPE2016

Paternal Loss-of-Function Mutations of GNAS and Growth Retardation in a Mice Model: A Specific Placental Transcriptomic Signature?

Tran Lea Chantal , Ballandone Celine , Vaiman Daniel , Barbaux Sandrine , Richard Nicolas , Kottler Marie-Laure

Background: GNAS gene is a complex imprinted locus, resulting in the expression of at least four transcripts (XL, NESP55, A/B and Gsα) characterized by their specific exon 1 and common exons 2-13. While Gαs is biallelically expressed in most tissues, XL is only expressed from the paternal allele. Maternally inherited, loss-of-function mutations affecting those GNAS exons that ...

hrp0086p2-p410 | Gonads & DSD P2 | ESPE2016

Unusual Differential Diagnosis of Hyperandrogenism in Adolescent Female Treated for Polycystic Ovarian Syndrome

Blasi Carolina Di , Amies-Oelschlager Anne-Marie , Ness Kathryn , Giesel Ann

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

hrp0086p2-p529 | Fat Metabolism and Obesity P2 | ESPE2016

Insulin Resistance Correlates to Cognitive Fatigue Dimensions in Non-diabetic Obese Children

Barat Pascal , Meiffred Marie-Claire , Brossaud Julie , Corcuff Jean-Benoit , Thibault Helene , Capuron Lucile

Background: Alterations in endocrine functions and low-grade systemic inflammation represent fundamental characteristics of obesity. These biological systems have been repeatedly linked to fatigue symptoms.Objective and hypotheses: The aim of the study was to assess the relationship between fatigue symptoms and metabolic/inflammatory markers in a sample of non-diabetic obese children.Method: The study was conducted in 41 obese (med...

hrp0086p1-p748 | Pituitary and Neuroendocrinology P1 | ESPE2016

GH Therapy Assessment in GH Deficient Patients During the Transition Period

Bounaga Amina , Schillo Frank , Mignot Brigitte , Toussirot Eric , Borot Sophie , Bertrand Anne Marie

Background: GH treatment in severe GH deficiency during the transition period is a key matter.Objective and hypotheses: To assess the outcome of 30 severe GH deficient (GHD) patients after a structured transition program, in a French Universitary Hospital between 1988 and 2014.Method: 30 patients treated with GH until final height for congenital deficiency: 16/30 (12 ectopic posterior pituitary), brain tumors: 11/30 (5 Rathke’...

hrp0086p1-p749 | Pituitary and Neuroendocrinology P1 | ESPE2016

Age of Onset of Puberty in Yaounde, Which Normative Reference Data?

Sap Suzanne , Komba Darelle , Sobngwi Eugene , Obama Marie Therese , Koki Paul Olivier , Mbanya Jean Claude

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

hrp0086p2-p872 | Syndromes: Mechanisms and Management P2 | ESPE2016

Metamemory in Turner Syndrome: A Study Comparing Episodic and Semantic Memory

Souchay Celine , Gourisse Laurene , Brigitte Mignot , Magali Avila , Bertrand Anne-Marie , Faivre Laurence

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...

hrp0086lbp8 | (1) | ESPE2016

Impact of Weight Loss after Bariatric Surgery on Gonadic Function in Severely Obese Female Adolescents

Gottrand Madeleine , Aubry Estelle , Aumar Aurelien , Caiazzo Robert , Cartigny Maryse , Pigeyre Marie , Pattou Francois , Gueorguieva Iva

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

hrp0082p1-d3-48 | Bone (1) | ESPE2014

Paternal Isodisomy and Sporadic Pseudohypoparathyroidism I-b

Colson Cindy , Brehin Anne Claire , Abeguile Genevieve , Decamp Matthieu , Richard Nicolas , Kottler Marie-Laure

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

hrp0082p2-d3-446 | Growth Hormone (2) | ESPE2014

Evaluation of the Safety and Usability of FlexPro® 30 mg/3 ml, for the Delivery of Norditropin® in Patients Requiring GH Therapy

Fuchs Gitte Schoning , Wen Yanhong , Klinck Rasmus , Qvist Marianne , Kappelgaard Anne-Marie

Introduction: This test assessed the safety and usability of FlexPro® 30 mg/3 ml (Novo Nordisk A/S, Denmark), a pen-injector for injection of human GH in patients with GH deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA), and validated the instructions for use (IFU) and instructional video.Methods: Children with GHD/SGA or TS/NS, adult patients, caregivers of patients with GHD/S...