ESPE Abstracts

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Background: Screening for glucose intolerance (GI) or type 2 diabetes (T2D) is recommended for obese children over 10 years of age (or onset of puberty) in the presence of ≧2 of the following risk factors: family history of T2D in a first- or second-degree relative, high risk ethnicity, signs of insulin resistance (IR) or associated conditions, or maternal gestational diabetes. The diagnostic importance of HbA1C levels is still controversial in children and adolescents....

Background: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among women of reproductive age with a prevalence of about 8% according to the Androgen Excess Society (AES) criteria. The pathophysiology of PCOS is not well understood and it is associated with a high prevalence of metabolic disorders. During puberty, irregular menses and acne are common, thus making the diagnosis of PCOS in adolescence challenging.Objective and hypothe...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Background: Synthetic glucocorticoids (GCs) are widely used drugs but their suppression of growth in pediatric patients is a well-known problem. Different mechanisms have been suggested but we still do not know the sensitivity of human growth plate cartilage to GC treatment. Here in this study, we have investigated the direct effects of GC treatment on the expression of crucial genes in the growth plate, such as collagen-2A1, osterix (Osx), and transforming growth factor &#946...

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: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...