ESPE Abstracts

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’...

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...

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...

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...

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...

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...

Background: We report here the case of a 5-week-old male patient, referred to the hospital because of failure to thrive. An adrenal insufficiency was diagnosed and the genetic testing showed a mutation in the DAX1 gene leading to a premature stop codon.In addition to adrenal hypoplasia congenita, DAX1 mutation is known to be classically associated with hypogonadotrophic hypogonadism which is mostly characterized by absence of onset of puberty and inferti...

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...